The Ashkenazic Genetic Disease Screen includes DNA testing for the most common mutations associated with four autosomal recessive diseases in the Ashkenazic Jewish Population: Tay-Sachs Disease (TSD), Cystic Fibrosis (CF),Canavan Disease (CD) and Familial Dysautonomia (FD). The carrier frequency and disease incidence have been estimated at approximately 1/31 and 1/3900 respectively for TSD, 1/25 and 1/2500 for CF, 1/36 and 1/5200 for CD, and 1/30 and 1/3700 for FD among Ashkenazic Jews. The Medical Genetics Laboratories at Baylor College of Medicine performs a collective DNA-based assay to screen for all four diseases in individuals at risk. In addition, Tay-Sachs Disease testing is also available through biochemical analysis. We offer biochemical quantification of serum hexosaminidase A activity to evaluate Tay-Sachs carrier status. This serum analysis is not appropriate for testing pregnant women. This combination of DNA and biochemical analyses improves the detection rate for Tay-Sachs carrier analysis. This collective ADS screen is most appropriate for individuals of Ashkenazic Jewish ancestry. This screen is not appropriate for individuals who are from other ethnic backgrounds, who should consider other genetic testing approaches for these diseases.

Reasons for Referral:

• Confirmation of diagnosis
• Carrier Identification
• Sperm and Egg Donors

Testing Methodology:

Direct DNA analysis is performed on 14 different mutations in four different genes listed below using an automated high-throughput system that incorporates DNA amplification (PCR), primer extension, and allele resolution by Matrix Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry. The mutations tested are:

Sensitivity:

~94% Detection for Tay-Sachs disease DNA analysis only for the Ashkenazic Jewish population
~98% Detection for Tay-Sachs disease with combined DNA and biochemical analysis
~97% Detection for Cystic Fibrosis
~98% Detection for Canavan Disease
~99% Detection for Familial Dysautonomia

Specimen Requirements:

Blood for DNA: EDTA (purple-top) tubes: Adults: 14 cc; Child: 6 cc; Infant: 2-3 cc
Biochemical for TSD: 5 cc blood in red top tube. Requisition form must accompany specimen. Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample.

Turnaround Time:

3 weeks

CPT Codes and Prices:

Ashkenazic Disease Screen: 83788x6, 83914x15, 83912, 83891, 83901x2, 83900x2, 83898x2
Ashkenazic Disease Screen with Hexosaminidase A&B: 83788x6, 83914x14, 83912, 83080, 83901x2, 83900x2, 83898x2, 83891

Shipping Information

Forms:

 >> DNA Requisition

Test Codes:

Ashkenazic Disease Screen: 6001
Ashkenazic Disease Screen with Hexosaminidase A&B: 6003

Medical Genetics Laboratories
Baylor College of Medicine · Houston, TX 77030
Phone: 1-800-411-GENE · Fax: 713-798-6584
E-mail: