Dna Test in Dubai

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DNA Tests

Achondroplasia

Achondroplasia is characterized by abnormal bone growth that results in short stature with disproportionately short arms and legs, a large head, and characteristic facial features with frontal bossing and mid-face hypoplasia. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often delayed. Intelligence and life span are usually normal, although compression of the spinal cord and/or upper airway obstruction increases the risk of death in infancy.

Albinism-OCA 1 Tyrosinase gene sequencing/ Albinism-OCA 2 gene-Common deletion

Oculocutaneous albinism (OCA) is caused by reduced or deficient melanin pigmentation in the skin, hair, and eyes. OCA has different phenotypes resulting from mutations in distinct pigmentation genes involved in melanogenesis. OCA type 2 (OCA2), the most common form of OCA, is an autosomal recessive disorder caused by mutations in the P gene.

Alkaptonuria-linkage studies/ Prenatal Diagnosis-linkage

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder. This blue-black pigmentation usually appears after age 30. People with alkaptonuria typically develop arthritis, particularly in the spine and large joints, beginning in early adulthood. Other features of this condition can include heart problems, kidney stones, and prostate stones.

Alpha 1 Anti Typsin (Z, S & M Mutation)

Alpha 1 Antitrypsin (A1AT) is a serine protease inhibitor required for the prevention of proteolytic tissue damage, principally in the lung, by neutrophil elastase released by inflammatory cells. While severe A1AT deficiency is the major factor leading to emphysema and related pulmonary diseases, it is also associated with neonatal hepatitis and cirrhosis.

Alpha thalassemia-deletions

Alpha thalassemia occurs when one or more of the four alpha chain genes fails to function. The loss of one gene diminishes the production of the alpha protein only slightly. This condition is very close to normal and is called a "silent carrier" because of the difficulty in detection. The loss of two genes (two-gene deletion alpha thalassemia) produces a condition with small red blood cells, and at most a mild anemia. People with this condition look and feel normal. The loss of three alpha genes produces a serious hematological problem (three-gene deletion alpha thalassemia). Patients with this condition have a severe anemia, and often require blood transfusions to survive. The loss of all four alpha genes produces a condition that is incompatible with life. Most people with four-gene deletion alpha thalassemia die in utero or shortly after birth.

Aneuploidy screening (21, 18, 13, X, Y, chm)

Aneuploidy is most often a result of incorrect division of chromosomes in the eggs of ageing women. Females, at birth, have their entire allotment of eggs, and as they age, their eggs age as well. When the eggs are finally recruited from a resting stage before ovulation, their chromosomes must undergo a certain number of divisions before fertilization occurs. It is during these divisions that errors may occur, and can affect the development and viability of the fertilized egg or embryo.

Aneuploidy screening avoids the transfer of embryos that would never implant due to chromosome abnormalities; thus maximizing your chances of getting pregnant in a single cycle. Additionally, studies have shown that PGD for aneuploidy increases implantation rates, reduces the rate of pregnancy loss by half, and increases take-home baby rates.

Angelman Syndrome (methylation test)

The severity of the symptoms associated with AS varies significantly across the population of affected persons. Some speech and a greater degree of self-care are possible among the least profoundly affected. Unfortunately, walking and the use of simple sign language may be beyond the reach of the more profoundly affected. As adulthood approaches, hyperactivity and poor sleep patterns improve.

Apert Syndrome

Apert Syndrome is a genetic defect and falls under the broad classification of craniofacial/limb anomalies. The major symptoms are prematurely fused cranial sutures, A retruded midface ,Fused fingers, Fused toes.

Apo E Genotyping

This test is done to identify the conditions like; evaluation of a possible genetic component to atherosclerosis, help treating decisions for individuals with cardiovascular disease, as an aid in the diagnosis of probable late onset Alzheimer's disease in a symptomatic adult, or to help confirm a diagnosis of Type III hyperlipoproteinemia (also known as familial dysbetalipoproteinemia)

Ataxia Telangiectasia-carrier screening by linkage

Ataxia telangiectasia (AT) is an autosomal recessive, multi-system disorder characterized by progressive neuromuscular and vascular degeneration. AT patients exhibit cerebellar ataxia; oculocutaneous telangiectases; and various immune defects including underdevelopment of the thymus leading to recurrent sinopulmonary infections.

Its most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma-rays. The first signs of the disease, which include delayed development of motor skills, poor balance, and slurred speech, usually occur during the first decade of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 20% of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

Ataxia Telangiectasia-PND by linkage

Canavan Disease- Asparto asylase (ASPA) gene sequencing

Mutations in the gene for aspartoacylase (ASPA), which catalyzes deacetylation of N-acetyl-Laspartate in the central nervous system (CNS), result in Canavan Disease, a fatal dysmyelinating disease. Canavan Disease (CD) is a neurodegenerative disorder most prevalent among Ashkenazi Jews. The pathology of CD is marked by brain vacuolization and dysmyelination, resulting in death during childhood.

Charcot Marie Tooth disease 1/ HNPP (Del/Dupl. PMP gene)

Charcot Marie Tooth disease is a heterogeneous inherited disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease. Presently incurable, this disease is one of the most common inherited neurological disorders, with 37 in 100,000 affected.

CMV-Cytomegalovirus-PCR

A virus that infects 50-85% of adults in the US by age 40 and is also the virus most frequently transmitted to a child before birth. Persons with symptoms have a mononucleosis-like syndrome with prolonged fever and mild hepatitis. Once a person becomes infected, the virus remains alive and usually dormant within that person's body for life. Recurrent disease rarely occurs unless the person's immune system is suppressed due to therapeutic drugs or disease. CMV infection is therefore a concern because of the risk of infection to the unborn baby, people who work with children, and immunodeficient people such as transplant recipients and those with HIV.

Congenital Adrenal Hyperplasia-Common deletion

Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). Most of these conditions involve excessive or deficient production of sex steroids and can alter development of primary or secondary sex characteristics in some affected infants, children, or adults. Examples of conditions caused by various forms of CAH:

• ambiguous genitalia, in some females, such that it can be initially difficult to determine sex
• vomiting due to salt-wasting leading to dehydration and death
• early pubic hair and rapid growth in childhood
• precocious puberty or failure of puberty to occur (sexual infantilism: absent or delayed puberty)
• excessive facial hair, virilization, and/or menstrual irregularity in adolescence
• infertility due to anovulation
• hypertension

Craniosynostosis ( non specific) C749-FGFR 3

Craniosynostosis, is a medical condition in which some or all of the sutures in the skull of an infant or child close too early, causing problems with normal brain and skull growth. It can result in craniostenosis, which is the skull deformity caused by the premature closure of the cranial sutures. Also intracranial pressure can be increased.

Crigler Najjar Syn.- UGT1A1 gene sequencing

Crigler-Najjar Syndrome or CNS is a rare disorder affecting the metabolism of bilirubin, a chemical formed from the breakdown of blood. The disorder results in an inherited form of non-hemolytic jaundice often leading to brain damage in infants.

Cruozon disease: FGFR 2 mutation (Ser 354 Cys)

Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. Low-set ear is a typical characteristic, as in all of the disorders which are called branchial arch syndromes. The most notable characteristic of Crouzon Syndrome is cranial synostosis, as described above, but it usually presents as brachycephaly, which results in the appearance of a short and broad head.

Cystic Fibrosis- Diagnosis (Delta 508 mutation)

Cystic fibrosis (also known as CF, mucoviscoidosis, or mucoviscidosis) is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.

Thick mucus production results in frequent lung infections. Diminished secretion of pancreatic enzymes is the main cause of poor growth, fatty diarrhea, and deficiency in fat-soluble vitamins. Males can be infertile due to the condition congenital bilateral absence of the vas deferens. Often, symptoms of CF appear in infancy and childhood. Meconium ileus is a typical finding in newborn babies with CF.

Cystic Megalencephaly- MLC1 gene sequencing

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood.

Deafness Connexin 26 gene-sequencing

Hearing loss is extremely common and can present at any time from infancy to old age. About 1 in 1000 infants has profound hearing impairment, with half thought to be of genetic origin. Many deafness genes exist, but the most common cause of hearing loss in American and European populations is a mutation in the connexin 26 (Cx26) gene. Cx26 has a carrier rate of 3%, similar to that for cystic fibrosis, and it causes about 20% of childhood deafness. Mutations in Cx26 cause congenital syndromic and nonsyndromic deafness—that is, the deafness is not accompanied by other symptoms, such as blindness.

DMD deletion testing - 18 exons

Duchenne muscular dystrophy (DMD) is a severe recessive x-linked form of muscular dystrophy that is characterized by rapid progression of muscle degeneration, eventually leading to loss in ambulation, paralysis, and death. This affliction affects one in 3500 males, making it the most prevalent of muscular dystrophies. In general, males are only afflicted, though females can be carriers. The disorder is caused by a mutation in the gene DMD, located in humans on the X chromosome. The DMD gene codes for the protein dystrophin, an important structural component within muscle tissue. Dystrophin provides structural stability to the dystroglycan complex (DGC), located on the cell membrane.

Symptoms usually appear in male children before age 6 and may be visible in early infancy. Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass is observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs may include pseudohypertrophy (enlargement of calf muscles), low endurance, and difficulties in standing unaided or inability to ascend staircases. As the condition progresses, muscle tissue experiences wasting and is eventually replaced by fat and fibrotic tissue (fibrosis). By age 10, braces may be required to aide in walking but most patients are wheelchair dependent by age 12. Later symptoms may include abnormal bone development that lead to skeletal deformities, including curvature of the spine. Due to progressive deterioration of muscle, loss of movement occurs eventually leading to paralysis. Intellectual impairment may also be present but does not progressively worsen as the child ages. The average life expectancy for patients afflicted with DMD varies from early teens to age mid 30s. There have been reports of DMD patients surviving past the age of 40 and even 50.

Dystonia (DYT 1 gene- common deletion)

Dystonia is a neurological movement disorder in which sustained muscle contractions cause twisting and repetitive movements or abnormal postures.[1] The disorder may be inherited or caused by other factors such as birth-related or other physical trauma, infection, poisoning (eg. lead poisoning) or reaction to drugs. Symptoms vary according to the kind of dystonia involved. In most cases, dystonia tends to lead to abnormal posturing, particularly on movement. Many sufferers have continuous pain, cramping and relentless muscle spasms due to involuntary muscle movements.

Ectodermal dysplasia X- linked –PND by linkage +MCC

Ectodermal Dysplasia (ED) is not a single disorder, but a group of closely related conditions of which more than one hundred and sixty different syndromes have been identified. The Ectodermal Dysplasias (EDs) are genetic disorders affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ED can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body.

Epidermolysis bullosa dystrophia (PND- by linkage)

Epidermolysis bullosa dystrophica includes a rare group of inherited diseases involving blistering of the skin. The mucous membranes or linings of the cavities of the body that open to the outside, such as the mouth and the surfaces of the eyes, are also sometimes involved. Epidermolysis bullosa is characterised by fragile skin that forms blisters usually following physical contact like a bump or graze, although can also occur spontaneously. Epidermolysis bullosa can vary in severity from minor blistering through to severe, where constant, massive blistering and scarring occur. In severe forms epidermolysis bullosa can result in:

• breathing or swallowing difficulties
• death
• malnutrition due to feeding difficulties
• nail changes
• scarring of the involved areas which may result in movement difficulties
• skin atrophy (reduced amount of skin) at the site of blisters
• skin cancer
• vision impairment.

Factor V Leiden

Factor V Leiden (sometimes Factor VLeiden) is the name given to a variant of human factor V that causes a hypercoagulability disorder. The excessive clotting that occurs in this disorder is almost always restricted to the veins, where the clotting may cause a deep vein thrombosis (DVT). If the venous clots break off, these clots can travel through the heart to the lung, where they block a pulmonary blood vessel and cause a pulmonary embolism. Women with the disorder have an increased risk of miscarriage and stillbirth. It is extremely rare for this disorder to cause the formation of clots in arteries that can lead to stroke or heart attack, though rare a "mini-stroke" known as a transient ischemic attack is more common.

Familial hypercholesterolemia (linkage, Prenatal)

Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic disorder characterized by high cholesterol levels, specifically very high low-density lipoprotein (LDL, "bad cholesterol") levels, in the blood and early cardiovascular disease. High cholesterol levels normally do not cause any symptoms. Cholesterol may be deposited in various places in the body that are visible from the outside, such as in yellowish patches around the eyelids (xanthelasma palpebrarum), the outer margin of the iris (arcus senilis corneae) and in the form of lumps in the tendons of the hands, elbows, knees and feet, particularly the Achilles tendon (tendon xanthoma).

FGFR 3 gene sequencing (Ach, Hypochond, Thanatophoric dw)

Mutation in FGR 3 gene causes various dwarfism. These condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).
People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate mental retardation or learning disabilities, but other studies have produced conflicting results.

Folate Polymorphism 3' 5 MTHFR ( 677C>T, 1298 A>C)

Folate plays an important role in carcinogenesis. The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR), encoded by the MTHFR gene, is involved in this process. Mutation on the gene results various consequences including endometrial cancer, Down's syndrome, Coronary Heart disease or leukemia.

Fragile X Screen- PCR based

Fargile X syndrome is a genetic syndrome which results in a spectrum (from none to severe) of characteristic physical, intellectual, emotional and behavioural features. Aside from intellectual disability, prominent characteristics of the syndrome include an elongated face, large or protruding ears, flat feet, larger testicles in men (macroorchidism), and low muscle tone. Speech may include cluttered speech or nervous speech[7]. Behavioral characteristics may include stereotypic movements (e.g., hand-flapping) and atypical social development, particularly shyness and limited eye contact. Some individuals with the fragile X syndrome also meet the diagnostic criteria for autism. Most females experience symptoms to a lesser degree because of their second X-chromosome, however they can develop just as severe symptoms. While full mutation males tend to present with severe intellectual disability, the symptoms of full mutation females run the gamut of minimally affected to severe intellectual disability, which may explain why females are underdiagnosed relative to males.

In short, similarities between X-linked recessive inheritance and fragile X are
1. Males are dominantly affected
2. Females (mothers) are obligatory carriers if a male child is affected, but not necessarily if female children are

Friedreich Ataxia

Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations

G-6-PD one mutation

G6PD deficiency is an inherited condition in which the body doesn't have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections.

Most people with G6PD deficiency don't have any symptoms, while others develop symptoms of anemia only after RBCs have been destroyed, a condition called hemolysis. In these cases, the symptoms disappear once the cause, or trigger, is removed. In rare cases, G6PD deficiency leads to chronic anemia.

Galatosemia gene sequencing (GALT)

Galactosemia (OMIM 230400) is a defect in the metabolism of galactose resulting in elevated levels of galactose and derivatives such as galactose-1-phosphate and galactitol. Severity of this disorder is quite variable, but the most severe “classic” form with onset in early infancy is characterized by vomiting, diarrhea, jaundice, cataracts, hepatomegaly and sepsis. If the amount of lactose in the diet is not reduced, these symptoms progress to death. Even in surviving patients, ovarian failure and lifelong speech and cognitive disabilities are expected.

Gaucher's disease (4 common mutations)

Gaucher disease is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and sometimes in the brain. There are three types of Gaucher disease. The first category, called type 1, is by far the most common. Patients in this group usually bruise easily and experience fatigue due to anemia and low blood platelets. They also have an enlarged liver and spleen, skeletal disorders, and, in some instances, lung and kidney impairment. There are no signs of brain involvement. Symptoms can appear at any age. In type 2 Gaucher disease, liver and spleen enlargement are apparent by 3 months of age. Patients have extensive and progressive brain damage and usually die by 2 years of age. In the third category, called type 3, liver and spleen enlargement is variable, and signs of brain involvement such as seizures gradually become apparent. All Gaucher patients exhibit a deficiency of an enzyme called glucocerebrosidase that is involved in the breakdown and recycling of glucocerebroside. The buildup of this fatty material within cells prevents the cells and organs from functioning properly. Gaucher disease is one of several lipid storage diseases.

Gilbert's disease (UGT1A1 Promoter polymorphism)

Gilbert's syndrome, often shortened to the acronym GS, is the most common hereditary cause of increased bilirubin, and is found in up to 5% of the population (though some Gastroenterologists maintain that it is closer to 10%). The main symptom is otherwise harmless jaundice which does not require treatment, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia).

The source of this hyperbilirubinemia is reduced activity of the enzyme glucuronyltransferase which conjugates bilirubin and some other lipophilic molecules. Conjugation renders the bilirubin water-soluble, after which it is excreted in bile into the duodenum.

Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally has no serious consequence. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise asymptomatic.

It has been reported that GS may contribute to an accelerated onset of neonatal jaundice

The enzymes that are defective in GS (UGT1A1) are also responsible for some of the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by UGT1A1.

While paracetamol (acetaminophen) is not metabolized by UGT1A1, it is metabolized by one of the other enzymes also deficient in some people with GS. A subset of people with GS may have an increased risk of paracetamol toxicity.

Glycogen storage 1a gene sequencing

Glycogen storage disease (synonyms: glycogenosis, dextrinosis) is any one of several inborn errors of metabolism that result from enzyme defects that affect the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types.

Hallorverden-Spantz disease (PND by linkage)

Hallervorden-Spatz disease (HSD) is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. Onset is most commonly in late childhood or early adolescence, but cases with adult onset have been described. The disease can be familial or sporadic. When familial, it is inherited recessively and has been linked to chromosome 20. Recently, a mutation in the pantothenate kinase (PANK2) gene on band 20p13 has been described in patients with typical HSD.

HSD is relentlessly progressive. The course is characterized by progressive dementia, corticospinal signs (eg, spasticity, hyperreflexia), and extrapyramidal signs including rigidity, dystonia, and choreoathetosis. Affected individuals typically die in the second or third decade. The course of the disease usually proceeds over 10-12 years, but case reports describe patients surviving 30 years

Hypochondroplasia (Sequencing)

Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs. Hypochondroplasia is similar to another skeletal disorder called achondroplasia, but the features tend to be milder.

All people with hypochondroplasia have short stature. The adult height for men with this condition ranges from 138 centimeters to 165 centimeters (4 feet, 6 inches to 5 feet, 5 inches). The height range for adult women is 128 centimeters to 151 centimeters (4 feet, 2 inches to 4 feet, 11 inches).

People with hypochondroplasia have short arms and legs and broad, short hands and feet. Other characteristic features include a large head, limited range of motion at the elbows, a sway of the lower back (lordosis), and bowed legs. These signs are generally less pronounced than those seen with achondroplasia and may not be noticeable until early or middle childhood. Some studies have reported that a small percentage of people with hypochondroplasia have mild to moderate mental retardation or learning disabilities, but other studies have produced conflicting results.

Mutations in the FGFR3 gene cause hypochondroplasia.

Hemochromatosis (2 mutations in HFE gene)

Hemochromatosis is the most common form of iron overload disease. Primary hemochromatosis, also called hereditary hemochromatosis, is an inherited disease. Secondary hemochromatosis is caused by anemia, alcoholism, and other disorders.

Juvenile hemochromatosis and neonatal hemochromatosis are two additional forms of the disease. Juvenile hemochromatosis leads to severe iron overload and liver and heart disease in adolescents and young adults between the ages of 15 and 30. The neonatal form causes rapid iron buildup in a baby’s liver that can lead to death.

Hemochromatosis causes the body to absorb and store too much iron. The extra iron builds up in the body’s organs and damages them. Without treatment, the disease can cause the liver, heart, and pancreas to fail.

Iron is an essential nutrient found in many foods. The greatest amount is found in red meat and iron-fortified breads and cereals. In the body, iron becomes part of hemoglobin, a molecule in the blood that transports oxygen from the lungs to all body tissues.

Healthy people usually absorb about 10 percent of the iron contained in the food they eat, which meets normal dietary requirements. People with hemochromatosis absorb up to 30 percent of iron. Over time, they absorb and retain between five to 20 times more iron than the body needs.

Because the body has no natural way to rid itself of the excess iron, it is stored in body tissues, specifically the liver, heart, and pancreas.

Joint pain is the most common complaint of people with hemochromatosis. Other common symptoms include fatigue, lack of energy, abdominal pain, loss of sex drive, and heart problems. However, many people have no symptoms when they are diagnosed.

If the disease is not detected and treated early, iron may accumulate in body tissues and eventually lead to serious problems such as

• arthritis
• liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure
• damage to the pancreas, possibly causing diabetes
• heart abnormalities, such as irregular heart rhythms or congestive heart failure
• impotence
• early menopause
• abnormal pigmentation of the skin, making it look gray or bronze
• thyroid deficiency
• damage to the adrenal glands

Hemophilia A/B, Carrier test

Haemophilia (also spelled as hemophilia, from the Greek haima "blood" and philia "to love"[1]) is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation. In its most common form, Hemophilia A, clotting factor VIII is absent. In Haemophilia B, factor IX is deficient. Hemophilia A occurs in about 1 in 5,000–10,000 male births[2], while Hemophilia B occurs at about 1 in about 20,000–34,000.

The effects of this sex-linked, X chromosome disorder are manifested almost entirely in males, although the gene for the disorder is inherited from the mother. Females have two X chromosomes while males have only one, lacking a 'back up' copy for the defective gene. Females are therefore almost exclusively carriers of the disorder, and may have inherited it from either their mother or father. In about 30% of cases of Hemophilia B, however, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation[2]. A mother who is a carrier has a 50% chance of passing the faulty X chromosome to her daughter, while an affected father will always pass on the affected gene to his daughters. A son cannot inherit the defective gene from his father.

These genetic deficiencies may lower blood plasma clotting factor levels of coagulation factors needed for a normal clotting process. When a blood vessel is injured, a temporary scab does form, but the missing coagulation factors prevent fibrin formation which is necessary to maintain the blood clot. Thus a haemophiliac does not bleed more intensely than a normal person, but for a much longer amount of time. In severe haemophiliacs even a minor injury could result in blood loss lasting days, weeks, or not ever healing completely. The critical risk here is with normally small injuries which, due to missing factor VIII, take long times to heal. In areas such as the brain or inside joints this can be fatal or permanently debilitating.

The bleeding with external injury is normal, but incidence of late re-bleeding and internal bleeding is increased, especially into muscles, joints, or bleeding into closed spaces. Major complications include hemarthrosis, hemorrhage, gastrointestinal bleeding, and menorrhagia.

Hemophilia A/B, (Prenatal diagnosis)

Herpes Virus infection (PCR)

Herpes simplex virus 1 and 2 (HSV-1 and HSV-2) are two species of the herpes virus family, Herpesviridae, which cause infections in humans. Eight members of herpesviridae infect humans to cause a variety of illnesses including cold sores, chickenpox or varicella, shingles or herpes zoster (VZV), cytomegalovirus (CMV), and various cancers, and can cause brain inflammation (encephalitis). All viruses in the herpes family produce life-long infections.

They are also called Human Herpes Virus 1 and 2 (HHV-1 and HHV-2) and are neurotropic and neuroinvasive viruses; they enter and hide in the human nervous system, accounting for their durability in the human body. HSV-1 is commonly associated with herpes outbreaks of the face known as cold sores or fever blisters, whereas HSV-2 is more often associated with genital herpes.

An infection by a herpes simplex virus is marked by watery blisters in the skin or mucous membranes of the mouth, lips or genitals.[1] Lesions heal with a scab characteristic of herpetic disease. However, the infection is persistent and symptoms may recur periodically as outbreaks of sores near the site of original infection. After the initial, or primary, infection, HSV becomes latent in the cell bodies of nerves in the area. Some infected people experience sporadic episodes of viral reactivation, followed by transportation of the virus via the nerve's axon to the skin, where virus replication and shedding occurs.

Herpes is contagious if the carrier is producing and shedding the virus. This is especially likely during an outbreak but possible at other times. There is no cure yet, but there are treatments which reduce the likelihood of viral shedding.

Hunter Syndrome - deletions

Hunter syndrome is a rare genetic disorder that occurs when an enzyme your body needs is either missing or malfunctioning.

Because the body doesn't have adequate supplies of the enzyme to break down certain complex molecules, the molecules build up in harmful amounts in certain cells and tissues. The buildup that occurs in Hunter syndrome eventually causes permanent, progressive damage affecting appearance, mental development, organ function and physical abilities.

Hunter syndrome appears in children as young as age 2. It nearly always occurs in males, although it may occur in females.

Treatment of Hunter syndrome mostly involves management of your symptoms and complications. Enzyme replacement therapy and other emerging therapies may offer more help in the future.

Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidosis (MPS), and Hunter syndrome is referred to as MPS II. There are two subtypes of Hunter syndrome, MPS IIA and MPS IIB. Symptoms vary according to subtype.

Type MPS IIA (early onset)
Early-onset Hunter syndrome (MPS IIA) is the more severe of the two types and usually appears around age 2 and up to age 4. This form of the disorder may result in profound mental retardation by late childhood. Children with this form of the syndrome usually don't survive beyond their teens.

Signs and symptoms of MPS IIA include:
• A decline in development, which usually appears between ages 1 1/2 and 3, followed by a progressive loss of skills
• Coarse facial features, including thickening of the lips, tongue and nostrils
• Abnormal bone size or shape and other skeletal irregularities
• Enlarged internal organs, such as the liver and spleen, resulting in a distended abdomen
• Respiratory difficulties including sleep apnea, a condition in which breathing intermittently stops during sleep
• Cardiovascular disorders, such as progressive thickening of heart valves, high blood pressure (hypertension) and obstruction of blood vessels
• Vision loss or impairment from degeneration of cells that capture light and buildup of cellular debris in the brain causing pressure on the optic nerve and eye
• Skin lesions on the back and upper arms
• Progressive loss of hearing
• Aggressive behavior
• Stunted growth
• Joint stiffness
• Diarrhea

Type MPS IIB (late onset)
Late-onset Hunter syndrome (MPS IIB) is milder and causes less severe symptoms that appear much later. This form is usually diagnosed after age 10, and may not be detected until adulthood. Intellectual and social development usually is nearly normal, but the condition may affect verbal and reading skills. People with this type of Hunter syndrome can live into their 50s.

Signs and symptoms of MPS IIB include:
• Abnormal bone size or shape and other skeletal irregularities, but less severe than in MPS IIA
• Somewhat stunted growth
• Poor peripheral vision
• Joint stiffness
• Hearing loss
• Diarrhea
• Sleep apnea

Huntington disease

Huntington diseases is an inherited genetic neurological disorder characterized by abnormally uncoordinated, jerky body movements called chorea and a decline in some mental abilities, which can lead to affected aspects of behavior. As the disorder progresses, it can cause complications that significantly reduce life expectancy. The exact mechanism of HD is unproven and there is currently no proven cure, so symptoms are managed with a range of medications to treat individual symptoms and supportive services. Global incidence varies, from 3 to 7 per 100,000 people of Western European descent, down to 1 per 1,000,000 of Asian and African descent. The onset of physical symptoms in Huntington's disease can occur at any age, but commonly occurs in a person's thirties to early fifties. If symptoms become noticeable before a person is twenty, their condition is known as juvenile HD.

Huntington's disease is one of several polyglutamine diseases caused by the length of a repeated section of a gene exceeding the normal range. The huntingtin gene (HTT) normally provides the information to produce Huntingtin protein, but when affected, produces mutant Huntingtin (mHTT) instead. The presence of mHTT causes an increase in the rate of neuronal cell death in select areas of the brain, affecting neurological functions.

The disorder is named after George Huntington, the American physician who first described it in 1872. In 1983 a marker for the altered DNA causing the disease was found, followed a decade later by discovery of a single, causal, gene. As it was caused by a single gene, an accurate genetic test for HD was developed, this was one of the first inherited genetic disorders for which this was possible. Due to the availability of this test, and similar characteristics with other neurological disorders, HD research has been increasing over time.

Physical symptoms are usually the first to cause problems and to be noticed, but at this point they are usually accompanied by cognitive and psychiatric ones that are often not recognized. Almost everyone with Huntington's disease eventually exhibits all physical symptoms, but cognitive and psychiatric symptoms vary significantly between individuals

Hypochondroplasia-common mutation C1620A in FGFR3

Jak 2 mutation

Jak 2 is an intracellular tyrosine kinase of the non-receptor type that associates with the intracellular domains of cytokine receptors; JAK2 is the predominant JAK kinase activated in response to several growth factors and cytokines such as IL-3, GM-CSF and erythropoietin; it has been found to be constitutively associated with the prolactin receptor and is required for responses to gamma interferon.

This enzyme is part of a messaging system inside the bone-producing cells (or stem cells) in our bone marrow. When a mutation occurs, the messaging system goes haywire, causing the stem cells to produce too many blood cells, resulting in myeloproliferative disorders.

Researchers are currently testing "designer drugs" that target the JAK2 mutation. We hope in the future these drugs will control or cure myeloproliferative disorders.

Krabbes disease- common deletion

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern.

Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. The buildup of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of motor skills. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin.

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.

Leb Hered Optic Atrophy- 3 mutations

Lowe Syndrome - linkage studies/ family

Lowe Syndrome (LS) is a rare genetic condition that causes physical and mental handicaps, and medical problems. The condition became known as "Lowe syndrome" named after Dr. Charles Lowe, the senior member of the group that described it. Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as OCRL (oculo-cerebro-renal) syndrome.

Boys with Lowe Syndrome are born with cataracts in both eyes, which are usually removed at a few months of age. Most boys are fitted with glasses, contacts, or a combination of the two. Glaucoma is present in about 50% of the boys with Lowe syndrome, though usually not at birth. Prescription eye drop and/or surgery is required to maintain appropriate eye pressure in these cases.

While not present at birth, many Lowe Syndrome boys develop kidney problems at approximately one year of age. This is characterized by the abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and other small proteins, calcium, phosphate, glucose, and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction and can also be seen in certain other diseases and syndromes. In Lowe syndrome, the Fanconi syndrome may be mild and involve only a few substances or may be severe and involve large losses of many substances. Medications can be prescribed to replace the lost substances.

Lowe syndrome is a hereditary condition that affects only males. It is caused by a single defective gene (an alteration or "mutation") in a gene called OCRL1. Because of this defective gene, an essential enzyme called PIP2-5-phosphatase is not produced. This is the underlying cause of Lowe syndrome. Much research has taken place in the last few years. The gene has been mapped and the defecient enzyme has been identified, although its role is not fully understood.

Maternal Cell Contamination

When performing genetic analysis on products of conception, an amniocentesis sample or villous sampling, it is always possible that the findings may represent contamination with maternal tissue rather than reflect fetal findings.

Maternal cell contamination may occur:
(1) if maternal tissue is sampled rather than fetal
(2) fetal tissue is nonviable
Maternal cell contamination should be suspected if:
(1) the fetus is necrotic
(2) the results of culture are XX but the phenotype is male

Marfan Syndrome-linkage studies

The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.

MCAD mutation (Medium chain acyl-coA dehyd)

Deficiency of an enzyme that makes it impossible to digest certain kinds of fat. MCAD stands for medium-chain acyl-CoA dehydrogenase. Children born with MCAD deficiency cannot metabolize (digest) medium-chain fats such as coconut oil. If undiagnosed, the disorder can lead to metabolic collapse, coma and even death. Babies who survive run the risk of severe brain damage. Treatment involves strict attention to what the baby eats. The child has to avoid medium-chain fats in the diet. It is a life-long disorder. The special formula translates into a permanent diet change. MCAD deficiency affects about 1 of every 15,000 babies born in the US.

The gene for MCAD is located on chromosome 1p31. Over 25 MCAD gene variants have been reported. One of these gene variants, the K304E MCAD mutation, accounts for the majority of MCAD mutations identified to date. MCAD is an autosomal recessive disorder. Therefore, individuals who are homozygous or compound heterozygous for an MCAD mutation may have abnormal protein product and subsequent inefficient enzymatic activity to metabolize medium-chain fatty acids.

MCAD-deficient patients are at risk for a combination of the following outcomes: hypoglycemia (Low blood sugar), vomiting, lethargy, encephalopathy (brain disease), respiratory arrest, hepatomegaly (enlarged liver), seizures, apnea, cardiac arrest, coma, and sudden death. Long-term outcomes may include developmental and behavioral disability, chronic muscle weakness, failure to thrive, cerebral palsy, and attention deficit hyperactivity disorder (ADHD).

A precipitating factor is needed for clinical symptoms to present. It is often in times of metabolic stress induced by fasting or infection, when the demands on fatty acid oxidation are particularly high, that an MCAD-deficient patient may present with symptoms. Factors that may contribute to presentation and/or increased severity of clinical outcomes include prolonged fasting, infections or recent immunization, age, and family history of Sudden Infant Death Syndrome (SIDS) or MCAD deficiency.

MCAD mutations can be identified through DNA-based tests using polymerase chain reaction (PCR) and therefore can be detected in newborns by DNA analysis from newborn blood spots. Mass screening for MCAD deficiency, however, is generally conducted with the detection of abnormal metabolites in urine or blood by tandem mass spectrometry . Typically, this technique is used as an initial screening modality followed by confirmation of MCAD deficiency with urine organic acid profile or DNA mutation analysis. Testing for MCAD deficiency can be done as one of the battery of newborn screening tests.

McArdle disease (R49 X mutation, Sequencing)

A condition caused by an inborn deficiency of muscle phosphorylase. There is an abnormal accumulation of glycogen in muscle tissue. Symptoms are exercise intolerance - muscular pain, fatigability - and muscle cramping. Rest relieves the muscle pain and enables exercise to resume. However, anaerobic activity leads to severe fixed contractures and myoglobinuria from muscle breakdown which can lead to acute renal failure. Size and initial power tone of muscle are normal at outset of exercise. Onset usually in early childhood, although diagnosis often not made until the second or third decade. Affected people appear normal on presentation with exercise intolerance but creatine kinase is raised. Many people experience a worsening of symptoms after middle age when muscle wasting may be seen. Unlike other types of glycogenosis the disease is not fatal and the missing enzyme does not impair the functioning of other body systems. Inheritance is autosomal recessive. Dominant form rarely reported.

Merosin deficiency-linkage/ PND

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessively inherited diseases, presenting at birth or within the first 6 months of life. Initial signs include hypotonia, muscle weakness and the variable appearance of contractures characterized by dystrophic changes on skeletal-muscle biopsy. The heterogeneous nature of CMD is reflected by differing degrees of motor developmental delay, physical disability, muscle pathology, elevation of serum creatine kinase (CK) and a variable presence of mental retardation and structural brain defects. Thus, CMD is among the most frequent autosomal recessively inherited neuromuscular disoders.

Congenital muscular dystrophies (CMDs) are a highly heterogeneous group of neuromuscular disorders. A subgroup displays a specific deficiency in a protein of the extracellular matrix, the 2 chain of laminin-2 (merosin). A number of mutations in the gene encoding this protein have been identified in patients who present with a severe phenotype and white matter changes.

Metaphyseal Dysplasia-COL 10A gene sequencing

Metaphyseal dysplasia is a very rare disorder in which the outer part of the shafts of long bones is unusually thin with a tendency to fracture. Aside from valgus knee deformities (commonly known as knock-knee), many patients with metaphyseal dysplasia exhibit few or no symptoms. However, the disorder comes in a variety of forms, some of which cause serious problems including mental retardation, blindness, and deafness.

The list of signs and symptoms mentioned in various sources for Multiple joint dislocations - metaphyseal dysplasia includes the 17 symptoms listed below:
• Dislocated hip
• Overly extended knee
• Dislocated joints
• Large fontanelle
• High arched palate
• Narrow palate
• Low set ears
• Small jaw
• Short stature
• Wormian bones
• Abnormal thumb positioning
• Newborn teeth
• Shagreen patch
• Lymphoedema
• Metaphyseal anomaly
• Facial dysmorphism
• Reduced skull calcification

Mytotonic dystrophy- type 1-19q 13.3

Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations, a phenomenon termed anticipation. Myotonic dystrophy (DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age. It is characterized by wasting of the muscles (muscular dystrophy), posterior subcapsular iridescent cataracts (opacity of the lens of the eyes), heart conduction defects, endocrine changes and myotonia (difficulty relaxing a muscle). Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations, a phenomenon termed anticipation.

Presentation of symptoms varies considerably by form (DM1/DM2), severity and even unusual DM2 phenotypes. DM1 patients often present with myotonia, disabling distal weakness and severe cognitive problems. DM2 patients commonly present with muscle pain, stiffness, fatigue, or the development of proximal lower extremity weakness (Day & al, 2003). The characteristic pattern of weakness is different for DM1 and DM2: In DM1, it is noted in face and jaw muscles, the drooping of the eyelids (ptosis), weakness of the neck muscles, hands and lower legs. In DM2, the weakness is more evident in proximal muscles, those closer to the trunk of the body: neck, shoulders, hip flexors and upper legs.

Noted DM1 symptoms which are considered less severe or common for DM2 are problems with smooth muscle (including G.I. symptoms), hypersomnia (daytime sleepiness), muscle wasting, dysphagia and respiratory insufficiency. DM1 patients may experience a more diverse range of cognitive problems than DM2. Depending on what form they have and the degree of severity, DM1 cognitive problems may range from developmental delays, learning problems, language, speech, behaviour, apathy or hypersomnia. Cognitive manifestations for DM2 include problems with executive function (i.e. organization, concentration, word-finding etc) and hypersomnia. Conduction abnormalities are more common in DM1 than DM2, but all patients are advised to have an annual ECG. Insulin resistance is a significant risk factor in both forms of the disease for diabetes, cholesterol, heart, stroke, lipids, fatty liver, etc.

Testing for insulin resistance must be at least 3 hours and include serial monitoring of the lipid profile and intermittent assessment of oral glucose tolerance testing as per the report from the 140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management (2006) Diabetes type 2 is suspected of being more common in DM2 than in DM1. Generally far fewer DM2 patients require assistive devices (canes, walkers, wheelchairs, scooters) than in DM1, though they experience increasing difficulties climbing stairs as the disease progresses, and falling or stumbling may sometimes be reported.

Mytotonic dystrophy- type 2- 3q 21

NCL -infantile (2 mutation)

NCL, which is referred to as Batten disease, is a neurodegenerative disease that affects infants and young children. Two forms of NCL, infantile and late infantile, are caused by the deficiency of a lysosomal enzyme. Infantile and late infantile NCL are brought on by inherited genetic mutations in the CLN1 gene, which codes for palmitoyl-protein thioesterase 1 (PPT1) and in the CLN2 gene, which codes for tripeptidyl peptidase I (TPP-I), respectively. The Company has completed enrollment and dosing of a six-patient Phase I clinical trial at Oregon Health & Science University Doernbecher Children's Hospital to evaluate the safety and preliminary efficacy of its HuCNS-SC product candidate as a treatment for infantile and late infantile NCL. In addition to evaluating the safety of HuCNS-SC cells, the trial will also evaluate the ability of the cells to affect the progression of the disease.

NCL, or Batten disease, is one of a group of approximately 46 lysosomal storage diseases (LSDs). All LSDs are caused by defective or missing proteins involved in lysosomal function and some LSDs can be treated by enzyme replacement therapies. Examples of enzyme replacement products already approved are Cerezymetm for Gaucher disease, Fabryzymetm for Fabry disease, Myozyme for Pompe disease, Aldurazymetm for MPS I and Naglazymetm for MPS VI. All of these approved products, however, address LSDs, which primarily affect peripheral organs and not the central nervous system. Stem cells treat various spinal cord indications using a mouse model of spinal cord injury. Inspection of the spinal cords from the treated mice showed significant levels of human neural cells derived from the transplanted stem cells. Some of these cells were oligodendrocytes, the specialized neural cell that forms the myelin sheath around axons, while others had become neurons and showed evidence of synapse formation, a requirement for proper neuronal function.

Neuroblastomatosis (linkage, PND)

Parkinson disease (Gly 19 ser mutation, by sequencing)

Parkinson's disease (also known as Parkinson disease or PD) is a degenerative disorder of the central nervous system that often impairs the sufferer's motor skills and speech, as well as other functions.

Parkinson's disease belongs to a group of conditions called movement disorders. It is characterized by muscle rigidity, tremor, a slowing of physical movement (bradykinesia) and, in extreme cases, a loss of physical movement (akinesia). The primary symptoms are the results of decreased stimulation of the motor cortex by the basal ganglia, normally caused by the insufficient formation and action of dopamine, which is produced in the dopaminergic neurons of the brain. Secondary symptoms may include high level cognitive dysfunction and subtle language problems. PD is both chronic and progressive.

PD is the most common cause of chronic progressive parkinsonism, a term which refers to the syndrome of tremor, rigidity, bradykinesia and postural instability. PD is also called "primary parkinsonism" or "idiopathic PD" (classically meaning having no known cause although this term is not strictly true in light of the plethora of newly discovered genetic mutations). While many forms of parkinsonism are "idiopathic", "secondary" cases may result from toxicity most notably of drugs, head trauma, or other medical disorders. The disease is named after English physician James Parkinson; who made a detailed description of the disease in his essay: "An Essay on the Shaking Palsy".

Parkinson disease affects movement (motor symptoms). Typical other symptoms include disorders of mood, behavior, thinking, and sensation (non-motor symptoms). Patients' individual symptoms may be quite dissimilar and progression of the disease is also distinctly individual.

Parvo virus-PCR

Parvovirus, commonly abbreviated to parvo, is a genus of the Parvoviridae family linear, non-segmented single stranded DNA viruses with an average genome size of 5 kbp. Parvoviruses are some of the smallest viruses found in nature (hence the name, from Latin parvus meaning small). Some have been found as small as 23nm.

Many types of mammalian species have a strain of parvovirus associated with them. Parvoviruses tend to be specific about the taxon of animal they will infect, but this is a somewhat flexible characteristic. Thus, all strains of canine parvovirus will affect dogs, wolves, and foxes, but only some of them will infect cats.

No members of the genus Parvovirus are currently known to infect humans, but humans can be infected by viruses from three other genera from the Family Parvoviridae. These are the Dependoviruses (e.g. Adeno-Associated Virus), the Erythroviruses (e.g. Parvovirus B19) and the Bocaviruses.

Parvoviruses can cause disease in some animals. Fifth disease is one of several possible manifestations of infection by parvovirus B19.The disease is also referred to as erythema infectiosum (meaning infectious redness) and as slapped cheek syndrome, slapcheek, slap face or slapped face. In Japan the disease is called 'apple sickness or ringo-byou' in reference to the symptom of facial redness. The name "fifth disease" derives from its historical classification as the fifth of the classical childhood skin rashes or exanthems.

Pelizaeus Merzbacher deletion/duplication

Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord (central nervous system). This disease is one of a group of genetic disorders called leukodystrophies. Leukodystrophies are characterized by degeneration of myelin, which is the covering that protects nerves and promotes the efficient transmission of nerve impulses. Pelizaeus-Merzbacher disease is caused by an inability to form myelin (dysmyelination). As a result, individuals with this condition have impaired intellectual functions, such as language and memory, and delayed motor skills, such as coordination and walking. Typically, motor skills are more severely affected than intellectual function; motor skills development tends to occur more slowly and usually stops in the second decade of life, followed by gradual deterioration.

Pelizaeus-Merzbacher disease is divided into classic and connatal types. Although these two types differ in severity, their features can overlap.

Classic Pelizaeus-Merzbacher disease is the more common type. Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills such as crawling or walking. As the child gets older, nystagmus usually stops but other movement disorders develop, including muscle stiffness (spasticity), problems with movement and balance (ataxia), and involuntary jerking (choreiform movements).

Connatal Pelizaeus-Merzbacher disease is the more severe of the two types. Symptoms can begin in infancy and include problems feeding, a whistling sound when breathing, progressive spasticity leading to joint deformities (contractures) that restrict movement, speech difficulties (dysarthria), ataxia, and seizures. Those affected with connatal Pelizaeus-Merzbacher disease show little development of motor skills and intellectual function.

Mutations in the PLP1 gene cause Pelizaeus-Merzbacher disease.

Polycystic Kidney dis (Aut. Rec. ARPKD) PND by linkage

Polycystic kidney disease (PKD, also known as polycystic kidney syndrome) is a progressive, ciliopathic, genetic disorder of the kidneys. It occurs in humans and other organisms. PKD is characterized by the presence of multiple cysts (hence, "polycystic") in both kidneys. The disease can also damage the liver, pancreas, and rarely, the heart and brain. The two major forms of polycystic kidney disease are distinguished by their patterns of inheritance.

Autosomal dominant polycystic kidney disease (ADPKD) is generally a late-onset disorder characterized by progressive cyst development and bilaterally enlarged kidneys with multiple cysts. Kidney manifestations in this disorder include renal function abnormalities, hypertension, renal pain, and renal insufficiency. Approximately 50% of patients with ADPKD have end-stage renal disease (ESRD) by the age of 60. ADPKD is a systemic disease with cysts in other organs such as the liver (which may lead to cirrhosis), seminal vesicles, pancreas, and arachnoid mater and non-cystic abnormalities such as intracranial aneurysms and dolichoectasias, dilation of the aortic root and dissection of the thoracic aorta, mitral valve prolapse, and abdominal wall hernias.

Initial simian and human symptoms are hypertension, fatigue, and mild to severe back or flank pain and urinary tract infections. The disease often leads to chronic renal failure and may result in total loss of kidney function, known as end stage renal disease (ESRD), which requires some form of renal replacement therapy (e.g. dialysis).

Autosomal recessive polycystic kidney disease (ARPKD) is much rarer than ADPKD and is often fatal in utero or during the first month of life. The signs and symptoms of the condition are usually apparent at birth or in early infancy.

Porphyria- Acute intermittent Common Mutation

Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs. It is found mostly in the blood, bone marrow, and liver. Heme is a component of hemoglobin, the molecule that carries oxygen in the blood.

The major types of porphyria are each caused by mutations in one of the genes required for heme production. Forms of porphyria include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria.

In addition to the genetic forms of porphyria, some cases of this disorder are caused by nongenetic factors such as infections or exposure to certain prescription drugs. These cases are described as sporadic or acquired porphyria.

The signs and symptoms of porphyria vary among the types. Some types of porphyria (called cutaneous porphyrias) cause the skin to become overly sensitive to sunlight. Areas of the skin exposed to the sun are fragile and easily damaged. Exposed skin may develop redness, blistering, infections, scarring, changes in pigmentation, and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.

Other types of porphyria (called acute porphyrias) mostly affect the nervous system. Appearing quickly and lasting from days to weeks, acute signs and symptoms include abdominal pain, vomiting, constipation, and diarrhea. During an attack, a person may also experience muscle weakness, seizures, fever, loss of sensation, and mental changes such as anxiety and hallucinations. These symptoms can be life-threatening in rare cases, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, have a combination of acute symptoms and symptoms that affect the skin.
Additional medical problems associated with some types of porphyria include a low number of red blood cells (anemia), enlargement of the spleen, abnormal liver function, and an increased risk of developing liver cancer.

Some people with the genetic changes that cause porphyria, particularly the acute forms of porphyria, never experience any features of this condition. Environmental factors can strongly influence the occurrence and severity of signs and symptoms in some types of porphyria. Alcohol, smoking, certain drugs, hormones, exposure to sunlight, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of these disorders.

Mutations in the ALAD, CPOX, FECH, HMBS, PPOX, UROD, and UROS genes cause porphyria.

The genes related to porphyria provide instructions for making the enzymes needed to produce heme. Mutations in any of these genes reduce enzyme activity, which limits the amount of heme the body can produce. In some forms of porphyria, nongenetic factors (such as certain drugs) also increase the demand for heme and the enzymes required to make heme. The combination of increased demand for this molecule and reduced enzyme activity disrupts heme production. As a result, byproducts of the process (compounds called porphyrins and porphyrin precursors) build up in the body's tissues. When these toxic substances accumulate in the skin and interact with sunlight, they cause the cutaneous forms of porphyria. The acute forms of the disease occur when porphyrins and porphyrin precursors build up and damage the nervous system and other organs.

Porphyria- Sequencing of Porphobilinogen gene

Prader Willi Syndrome-methylation test

Prenatal diagnosis employs a variety of techniques to determine the health and condition of an unborn fetus. Without knowledge gained by prenatal diagnosis, there could be an untoward outcome for the fetus or the mother or both. Congenital anomalies account for 20 to 25% of perinatal deaths. Specifically, prenatal diagnosis is helpful for:

• Managing the remaining weeks of the pregnancy
• Determining the outcome of the pregnancy
• Planning for possible complications with the birth process
• Planning for problems that may occur in the newborn infant
• Deciding whether to continue the pregnancy
• Finding conditions that may affect future pregnancies

For dominant disorders, testing of a positive control is an essential aspect of accurate prenatal diagnosis. Separate Carrier Tests on the parents are optional. During prenatal diagnosis, we must have on hand a specimen from an affected family member and a maternal specimen for MCC testing. If such specimens were tested more than 6 months previously, fresh specimens are requested from the mother and (if he is a positive control) the father.

Prothrombin gene polymorphism (G20210A)

Inherited thrombophilia is a genetic tendency to venous thromboembolism. Factor V Leiden is the most common cause of the syndrome accounting for 40 to 50 percent of cases. The prothrombin gene mutation and deficiencies in protein S, protein C, and antithrombin account for most of the remaining cases, while rare causes include the dysfibrinogenemias.

The total incidence of an inherited thrombophilia in subjects with a deep vein thrombosis ranges from 24 to 37 percent overall compared to about 10 percent in controls.

PROTHROMBIN GENE — Prothrombin (factor II) is the precursor of thrombin, the end-product of the coagulation cascade. It is a vitamin K-dependent protein which is synthesized in the liver and circulates with a half-life of approximately three to five days. Vitamin K acts as a cofactor for posttranslational gamma-carboxylation of prothrombin which is required for functional activity.

Prothrombin G20210A — The human prothrombin gene spans 21 kb on chromosome 11p11-q12 and consists of 14 exons and 13 introns, which account for 90 percent of the sequence. A report published in 1996 identified a transition (guanine to adenine) at nucleotide 20210 in the 3' untranslated region of the prothrombin gene as a risk factor for thrombosis. Heterozygous carriers have 30 percent higher plasma prothrombin levels than normals.

Restrictive Dermopathy (Specific mutation by sequencing)

This is a rare inherited disorder characterized by abnormally tight noncompliant skin. Patients have flexion contractures of the extremities, low set malformed ears, micrognathia, hypertelorism, and a small fixed open mouth. Abnormalities of the hair and nails, linear skin splits, and ectropion are variably present.

Restrictive dermopathy (RD) is caused by the loss of the gene ZMPSTE24, which encodes a protein responsible for the cleavage of farnesylated prelamin A (progerin) into mature non-farnesylated lamin. This results in the accumulation of farnesyl-prelamin A at the nuclear membrane. Mechanistically, restrictive dermopathy is somewhat similar to Hutchinson-Gilford progeria syndrome (HGPS), a disease where the last step in lamin processing is hindered by a mutation that causes the loss of the ZMPSTE24 cleavage site in the lamin A gene.

Retinoblastoma- deletion/duplication

Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.

It is a cancer of one or both eyes which occurs in young children. There are approximately 350 new diagnosed cases per year in the United States. Retinoblastoma affects one in every 15,000 to 30,000 live babies that are born in the United States. Retinoblastoma affects children of all races and both boys and girls.

The retinoblastoma tumor(s) originate in the retina, the light sensitive layer of the eye which enables the eye to see. When the tumors are present in one eye, it is referred to as unilateral retinoblastoma, and when it occurs in both eyes it is referred to as bilateral retinoblastoma. Most cases (75%) involve only one eye (unilateral); the rest (25%) affect both eyes (bilateral). The majority (90%) of retinoblastoma patients have no family history of the disease; only a small percentage of newly diagnosed patients have other family members with retinoblastoma (10%).

Prenatal diagnosis can be done with the CVS samples.

Rett Syndrome MECP2 deletion/ duplication

Rett syndrome (also called Rett disorder) is a neurodevelopmental disorder that is classified as a pervasive developmental disorder by the DSM-IV. The clinical features include a deceleration of the rate of head growth (including microcephaly in some) and small hands and feet. Stereotypic, repetitive hand movements such as mouthing or wringing are also noted. Symptoms of the disorder include cognitive impairment and problems with socialization, the latter during the regression period. Socialization typically improves by the time they enter school. Girls with Rett syndrome are very prone to gastrointestinal disorders and up to 80% have seizures.They typically have no verbal skills, and about 50% of females are not ambulatory. Scoliosis, growth failure, and constipation are very common and can be problematic. Man argue that it is misclassified as a pervasive developmental disorder, just as it would be to include such disorders as fragile X syndrome, tuberous sclerosis, or Down syndrome where one can see autistic features. The symptoms of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism.

Rett Syndrome MECP2 -Sequencing

Blood typing is especially important during pregnancy. If the mother is found to be Rh-, the father should also be tested. If the father has Rh+ blood, the mother needs to receive a treatment to help prevent the development of substances that may harm the unborn baby. See: Rh incompatibility

If you are Rh+, you can receive Rh+ or Rh- blood. If you are Rh-, you can only receive Rh- blood. If your blood cells stick together when mixed with:
• Anti-A serum, you have type A blood
• Anti-B serum, you have type B blood
• Both anti-A and anti-B serums, you have type AB blood

RH typing:
• If your blood cells stick together when mixed with anti-Rh serum, you have type Rh-positive blood.
• If your blood does not clot when mixed with anti-Rh serum, you have type Rh-negative blood.

Risks associated with taking blood may include:
• Fainting or feeling light-headed
• Multiple punctures to locate veins
• Excessive bleeding
• Hematoma (blood accumulating under the skin)
• Infection (a slight risk any time the skin is broken)

Rh incompatibility is a condition that develops when a pregnant woman has Rh-negative blood and the baby in her womb has Rh-positive blood. During pregnancy, red blood cells from the fetus can get into the mother's bloodstream as she nourishes her child through the placenta. If the mother is Rh-negative, her system cannot tolerate the presence of Rh-positive red blood cells.

In such cases, the mother's immune system treats the Rh-positive fetal cells as if they were a foreign substance and makes antibodies against the fetal blood cells. These anti-Rh antibodies may cross the placenta into the fetus, where they destroy the fetus's circulating red blood cells.

First-born infants are often not affected -- unless the mother has had previous miscarriages or abortions, which could have sensitized her system -- as it takes time for the mother to develop antibodies against the fetal blood. However, second children who are also Rh-positive may be harmed.

Hemoglobin changes into bilirubin, which causes an infant to become yellow (jaundiced). The jaundice of Rh incompatibility, measured by the level of bilirubin in the infant's bloodstream, may range from mild to dangerously high levels of bilirubin.

Rh incompatibility develops only when the mother is Rh-negative and the infant is Rh-positive. Special immune globulins, called RhoGAM, are now used to prevent this sensitization. In developed countries such as the US, hydrops fetalis and kernicterus have decreased markedly in frequency as a result of these preventive measures.

Rh incompatibility can cause symptoms ranging from very mild to fatal. In its mildest form, Rh incompatibility causes destruction of red blood cells.

Symptoms may include:
" Jaundice
" Hypotonia
" Motormental retardation
" Polyhydramnios (before birth)

Rubella (PCR)

Rubella, commonly known as German measles, is a disease caused by Rubella virus. The name is derived from the Latin, meaning little red. Rubella is also known as German measles because the disease was first described by German physicians in the mid-eighteenth century. This disease is often mild and attacks often pass unnoticed. The disease can last one to five days. Children recover more quickly than adults. Infection of the mother by Rubella virus during pregnancy can be serious; if the mother is infected within the first 20 weeks of pregnancy, the child may be born with congenital rubella syndrome (CRS), which entails a range of serious incurable illnesses. Spontaneous abortion occurs in up to 20% of cases.

Rubella is a common childhood infection usually with minimal systemic upset although transient arthropathy may occur in adults. Serious complications are very rare. Apart from the effects of transplacental infection on the developing foetus, rubella is a relatively trivial infection.

Acquired, (i.e. not congenital), rubella is transmitted via airborne droplet emission from the upper respiratory tract of active cases. The virus may also be present in the urine, faeces and on the skin. There is no carrier state: the reservoir exists entirely in active human cases. The disease has an incubation period of 2 to 3 weeks.

In most people the virus is rapidly eliminated. However, it may persist for some months post partum in infants surviving the CRS. These children are a significant source of infection to other infants and, more importantly, to pregnant female contacts.

Russel Silver Syndrome (UP Disomy)

Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/75000 births. In the United States it is usually referred to as Russel-Silver Syndrome, and Silver-Russell Syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable. Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes. There is no statistical significance of the syndrome occurring in males or females.

Spinal Muscular atrophy, diagnosis

Spinal Muscular Atrophy (SMA) is a term applied to a number of different disorders, all having in common a genetic cause and the manifestation of weakness due to loss of the motor neurons of the spinal cord and brainstem.

Infantile SMA is the most severe form. Some of the symptoms include:
• muscle weakness
• poor muscle tone
• weak cry
• limpness or a tendency to flop
• difficulty sucking or swallowing
• accumulation of secretions in the lungs or throat
• legs that tend to be weaker than the arms
• hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells
• feeding difficulties
• increased susceptibility to respiratory tract infections
• developmental milestones, such as lifting the head or sitting up, can't be reached.

In general, the earlier the symptoms appear, the shorter the life span. The onset is sudden and dramatic. Once symptoms appear the motor neuron cells quickly deteriorate shortly after. The disease can be fatal and there is no cure for SMA yet known. The major management issue in Type 1 SMA is the prevention and early treatment of respiratory infections; pneumonia is the cause of death in the majority of the cases. Infants with Type 1 SMA have a life expectancy of less than two years, however, some grow to be adults. Intellectual and later, sexual functions, are unaffected by SMA.

Spino- Cerebellar ataxia -One type

Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right.

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms.

The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.

Type 1 patients suffer from Hypermetric saccades, slow saccades, upper motor neuron (note: saccades relates to eye movement)

Spino- Cerebellar ataxia -Two type

Spinocerebellar ataxia (SCA) is a genetic disease with multiple types, each of which could be considered a disease in its own right.

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms.

The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.

Type 2 patients suffer from Diminished velocity saccades areflexia (absence of neurologic reflexes)

Spino- Cerebellar ataxia -package (1,2,3,6,7,8,12, 17 DRPLA)

Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.

As with other forms of ataxia, SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms. The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a person with ataxia retains full mental capacity but may progressively lose physical control.
This is the package identification of various kinds of SCA.

Spinal bulbar muscular atrophy (SBMA) CAG repeats

Spinal bulbar muscular atrophy is a genetic disease in which loss of nerve cells in the spinal cord and brainstem called motor neurons affects the part of the nervous system that controls voluntary muscle movement.

The cause is a genetic mutation that affects an X-chromosome gene for the androgen receptor protein, apparently making it toxic to nerve cells.

Onset of the disease is in Adulthood - 30 to 50 years.

Symptoms include, weakness of the muscles of the mouth, throat, face and limbs. Symptoms related to abnormal processing of androgens (male hormones), such as breast enlargement and reduced fertility, may also occur.

Spondyloepiphyseal dysplasia X-linked gene sequencing

Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and occasionally problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.

Sry+Amxy gene study (Y chromosome)

Thalassemia-beta (Confirmation of known mutation)

Thalassemia is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

Hemoglobinopathies imply structural abnormalities in the globin proteins themselves. The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Thus, some thalassemias are hemoglobinopathies, but most are not.

Generally, thalassemias are prevalent in populations that evolved in humid climates where malaria was endemic, but affects all races. Thalassemias are particularly associated with Arab-Americans, people of Mediterranean origin, and Asians. The estimated prevalence is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from India, Pakistan, Bangladesh, Malaysia and China. There are also prevalences in descendants of people from Latin America, and Mediterranean countries (e.g. Spain, Portugal, Italy, Greece and others). A very low prevalence has been reported from people in Africa (0.9%), with those in northern Africa having the highest prevalence, and northern Europe (0.1%).

The thalassemias are classified according to which chain of the hemoglobin molecule is affected (see hemoglobin for a description of the chains). In a thalassemias, production of the a globin chain is affected, while in ß thalassemia production of the ß globin chain is affected.

Thalassemia produces a deficiency of a or ß globin, unlike sickle-cell disease which produces a specific mutant form of ß globin.

Deletion of one of the a loci has a high prevalence in people of African-American or Asian descent, making them more likely to develop a thalassemias. ß thalassemias are common in African-Americans, but also in Greeks and Italians.

Alpha (a) thalassemias
The a thalassemias involve the genes HBA1 (Online 'Mendelian Inheritance in Man' (OMIM) 141800) and HBA2 (Online 'Mendelian Inheritance in Man' (OMIM) 141850), inherited in a Mendelian recessive fashion. It is also connected to the deletion of the 16p chromosome. a thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of ß chains in adults and excess ? chains in newborns. The excess ß chains form unstable tetramers (called Hemoglobin H or HbH of 4 beta chains) which have abnormal oxygen dissociation curves.

Beta (ß) thalassemias
Beta thalassemias are due to mutations in the HBB gene on chromosome 11 (Online 'Mendelian Inheritance in Man' (OMIM) 141900), also inherited in an autosomal-recessive fashion. The severity of the disease depends on the nature of the mutation. Mutations are characterized as (ßo) if they prevent any formation of ß chains; they are characterized as (ß+) if they allow some ß chain formation to occur. In either case there is a relative excess of a chains, but these do not form tetramers: rather, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations they form toxic aggregates.

Delta (d) thalassemia
As well as alpha and beta chains being present in hemoglobin about 3% of adult hemoglobin is made of alpha and delta chains. Just as with beta thalassemia, mutations can occur which affect the ability of this gene to produce delta chains.

There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone. This is a very rough estimate and the actual number of thalassemia Major patients is unknown due to the prevalence of thalassemia in less developed countries in the Middle East and Asia.

Thanotrophic dwarfism (common mutation)

Thrombophilia Profile- 3 genes- MTHFR, Factor v Leiden, Prothrombin

Thrombophilia, or hypercoagulability, means an increased risk for thrombosis. Thrombophilia may be congenital or acquired. Thrombosis may be cardiovascular, including angina, myocardial infarction (MI), and peripheral vascular disease (PVD); cerebrovascular, including transient ischemic attack (TIA) and stroke, or venous thromboembolic disease, including deep venous thrombosis (DVT) or pulmonary embolism (PE). Cardiovascular and cerebrovascular diseases are highly dependent on platelet aggregation while venous thromboembolic diseases may be related to coagulation system abnormalities.

Factors involved in the Thrombophillic profiles.
• APCR: heterozygous factor V Leiden mutation
• APCR: homozygous factor V Leiden mutation
• Prothrombin G20210A heterozygotes
• Antithrombin deficiency heterozygotes
• Protein C deficiency heterozygotes
• Protein S deficiency heterozygotes

Toxoplasmosis (PCR)

Toxoplasmosis is a parasitic disease caused by the protozoan Toxoplasma gondii.[1] The parasite infects most warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of faeces of a cat that has itself recently been infected, or by transmission from mother to fetus. Cats have been shown as a major reservoir of this infection.

Up to one third of the world's population is estimated to carry a Toxoplasma infection.[3] The Centers for Disease Control and Prevention notes that overall seroprevalence in the United States as determined with specimens collected by the National Health and Nutritional Assessment Survey (NHANES) between 1999 and 2004 was found to be 10.8%, with seroprevalence among women of childbearing age (15 to 44 years) of 11%.

During the first few weeks, the infection typically causes a mild flu-like illness or no illness. After the first few weeks of infection have passed, the parasite rarely causes any symptoms in otherwise healthy adults. However, people with a weakened immune system, such as those infected with HIV or pregnant, may become seriously ill, and it can occasionally be fatal. The parasite can cause encephalitis (inflammation of the brain) and neurologic diseases and can affect the heart, liver, and eyes (chorioretinitis).

Waardenburg Syndrome Pax 3 gene sequencing

Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation anomalies.

This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. A small percentage of cases result from new mutations in the gene; these cases occur in people with no history of the disorder in their family.

Some cases of type II and type IV Waardenburg syndrome appear to have an autosomal recessive pattern of inheritance, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene.

Types I and II are the most common types of the syndrome, whereas types III and IV are rare. Overall, the syndrome affects perhaps 1 in 42,000 people. About 1 in 30 students in schools for the deaf have Waardenburg syndrome. All races and both sexes are affected equally. The highly variable presentation of the syndrome makes it difficult to arrive at precise figures for its prevalence.

Symptoms vary from one type of the syndrome to another and from one patient to another, but they include:
• Very pale or brilliantly blue eyes, eyes of two different colors (complete heterochromia), or eyes with one iris having two different colours (sectoral heterochromia);
• A forelock of white hair (poliosis), or premature graying of the hair;
• Wide-set eyes (hypertelorism) due to a prominent, broad nasal root (dystopia canthorum—particularly associated with type I);
• Moderate to profound hearing impairment (higher frequency associated with type II); and
• A low hairline and eyebrows that touch in the middle.
• Patches of white pigmentation on the skin have been observed in some people. Sometimes, abnormalities of the arms, associated with type III, have been observed.
• Type IV may include neurologic manifestations.

Waardenburg syndrome has also been associated with a variety of other congenital disorders, such as intestinal and spinal defects, elevation of the scapula, and cleft lip and palate.

Wilson diseases-PND by linkage

Wilson's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication that reduces copper absorption or removes the excess copper from the body, but occasionally a liver transplant is required.

The condition is due to mutations in the Wilson disease protein (ATP7B) gene. A single abnormal copy of the gene is present in 1 in 100 people, who do not develop any symptoms (they are carriers). If a child inherits the gene from both parents, they may develop Wilson's disease. Symptoms usually appear between the ages of 6 and 20 years, but cases in much older patients have been described. Wilson's disease occurs in 1 to 4 per 100,000 people. Wilson's disease is named after Dr Samuel Alexander Kinnier Wilson (1878-1937), the British neurologist who first described the condition in 1912.

UGT1A1 * 28 Genotyping

This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. Mutations in this gene result in Crigler-Najjar syndromes types I and II and in Gilbert syndrome.

Lack of expression of UGT1A1 in the neonatal liver is the major cause of jaundice in newborns. This jaundice is generally caused by the natural breakdown of fetal blood cells which produces bilirubin that cannot be cleared if UGT1A1 is expressed at low levels or is absent. This type of jaundice can remedied by UV light exposure.

X-linked ichthyosis (Deletion in STS gene)

X-linked ichthyosis (XLI) is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI and can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms.

The major symptoms of XLI include scaling of the skin, particularly on the neck, trunk, and lower extremities. The extensor surfaces are typically the most severely affected areas. The >4 mm diameter scales adhere to the underlying skin and can be dark brown or gray in color. Symptoms may subside during the summer.

X-linked hydrocephalus- MASA syndrome-linkage

A rare genetic disorder characterized by hydrocephalus, short flexed thumbs and mental deficiency. Symptoms include
• Mental deficiency
• Spasticity
• Narrow scaphocephalic cranium
• Hydrocephalus
• Thumb flexed over palm

XMN Polymorphism Gr gene (thalassemia child)

Y-Chromosome deletions (10)

Male infertility affects approximately 2-7% of couples around the world. Over one in ten men who seek help at infertility clinics are diagnosed as severely oligospermic or azoospermic. Recent extensive molecular studies have revealed that deletions in the azoospermia factor region of the long arm of the Y chromosome are associated with severe spermatogenic impairment (absent or severely reduced germ cell development). Genetic research into male infertility, in the last 7 years, has resulted in the isolation of a great number of genes or gene families on the Y chromosome, some of which are believed to influence spermatogenesis.

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	Modified On: May 20, 2012
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