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Ashkenazi Jewish Genetic Screening - Panel 2

A number of autosomal recessive disorders are found at higher frequencies in the Ashkenazi Jewish population. Most of these disorders are untreatable neurodegenerative diseases that result in reduced life expectancy. The American College of Obstetricians and Gynecologists recommends that individuals of Ashkenazi Jewish descent be offered genetic screening for cystic fibrosis, Tay-Sachs disease, Canavan disease, and familial dysautonomia as part of routine obstetric care. An additional screening test for other less common disorders is also available for mucolipidosis IV, Niemann-Pick disease type A, glycogen storage disease type 1A, and Bloom syndrome. See Ashkenazi Jewish Genetic Screening - Panel 1 and Gaucher Disease Carrier Testing for testing information on the more common disorders.

Indications for Testing

• Carrier screening
• Gamete donors

Testing Methodology

Direct mutation analysis: For mucolipidosis IV, Niemann-Pick disease type A, glycogen storage disease type 1A, and Bloom syndrome, Amplification Refractory Mutation System (ARMS) technology is used to screen for 7 mutations relevant to the Ashkenazi Jewish population:

Sensitivity

Carrier detection rates in the Ashkenazi Jewish population:

• Mucolipidosis IV 95%
• Niemann-Pick disease type A 92%
• Glycogen storage disease type 1A 97%
• Bloom syndrome 97%

This carrier screening test is most appropriate for individuals of Ashkenazi Jewish descent. This test may not be appropriate for individuals from other ethnic backgrounds. The sensitivity of this carrier screen in non-Jewish populations has not been established. This test is not appropriate for fetal diagnosis or diagnosis of individuals with clinical phenotype.

Specimen Requirements

Blood: 5 cc collected in a purple top (EDTA) or yellow top (acid citrate dextrose) vacutainer tube. Do not centrifuge or freeze. Sample may be refrigerated or stored at room temperature.

Turnaround Time

14 days

CPT Codes

Panel 2: 83891, 83894, 83900, 83901 (4X), 83912

Panel 1 and 2: 83891, 83894 (2X), 83900, 83901 (4X), 83909, 83912, 83914 (4X)

Forms and Transport & Shipping Informtaion

> Medical Genetics Test Requisition Form

> Standard DNA Consent Form

> Medical Genetics Specimen Transport and Shipping Information