MOLECULAR STUDY - ASHKENAZI JEWISH CLUSTER-2, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 3814

Sample:	Whole blood EDTA (minimum 10 ml)
Conservation:	Refrigerated
Method:	Sequencing + Cleave Assay
Set Up Days:	Daily
TAT (Days):	40 days
Information:
Some ethnic groups are at increased risk for certain genetic diseases. In Ashkenazi Jewish population (Central-Eastern Europe) there are common genetic conditions that are inherited by their descendants. Thanks to advances in knowledge of genes, can now identify a number of genetic disorders for which there are studies to detect carriers. Our laboratory is offering a study (JA Cluster) for determining whether a person carries one of these diseases: Cystic Fibrosis (CFTR gene) is detected in 97% of cases, Tay-Sachs disease (gene Hex A, detected in 95% of cases) is a neurological disorder causing severe physical and mental deterioration with death usually at age 5 years, Canavan disease (ASPA gene, detected in 98% of cases) is another severe neurological disease in which the brain and nervous system becomes degenerate and there is no treatment and death occurs in infancy, Gaucher disease (GBA gene, detected in 95% of cases) may arise from a mild to very severe form in children and adults wich can suffer from anemia, enlarged liver and spleen, nose bleeds, and their bones break easily, and Familial Dysautonomia (IKBKAP gene, detected in 99 '5% of cases) and also is a severe neurological disorder that causes problems with swallowing and excessive sweating and children have gastrointestinal problems and pulmonary complications such as pneumonia. All diseases are autosomal recessive.

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