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- 2507+6 T>C
- Jewish Heritage Test
- Riley-Day Syndrome
Carrier detection of familial dysautonomia in the Ashkenazi Jewish population. DNA testing may be used to confirm affected status. Prenatal testing is available.
This test has limited value in individuals who are not of Ashkenazi Jewish descent. This assay detects two mutations, IVS20+6T>C and R696P. No other mutations are detected.
Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis
Familial dysautonomia (OMIM 223900), also known as Riley-Day syndrome, is an autosomal recessive disorder that is characterized by absence of papillae of the tongue, decreased tearing, erythematous blotching of the skin, difficulties with swallowing, relative insensitivity to pain, and reduced life expectancy. The mutation detection rate for this assay varies with ethnicity. Two mutations have been found to be responsible for the majority of familial dysautonomia cases in the Ashkenazi Jewish population, with approximately 1 in 30 individuals being carriers. The mutation detection rate is negligible among non-Jewish Caucasians and unknown in other ethnic groups. For this reason, this test has limited value for people of non-Ashkenazi Jewish ancestry. DNA test results must be combined with clinical information for the most accurate interpretation.
Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)
7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit
3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs
Maintain specimen at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab