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Ashkenazi Jewish Disease Carrier Screening Panel

The Ashkenazi Jewish Disease Carrier Screening Panel includes a group of genetic diseases which are common amongst those of Ashkenazi Jewish ancestry. A total of 23 of the most common mutations were included in this panel. The chart below shows the disorder, carrier frequency and detection rate of the screening test. Combining the diseases in one panel simplifies the testing process for patients. Testing for individual disease(s) is also available for those who do not wish to have the entire panel.

Cystic fibrosis screening is not included in the panel and must be ordered as a separate test.

Frequency
Ashkenazi Jewish DiseaseCarrier frequencyDetection rate
Tay Sachs Disease1 in 3198%
Canavan Disease1 in 4898%
Familial Dysautonomia1 in 31>99%
Bloom syndrome1 in 107>99%
Fanconi Anemia, group C1 in 8999%
Gaucher Disease1 in 1895%
Mucolipidosis, type IV1 in 12295%
Niemann Pick Disease1 in 9094%
Details

Indications for Testing

  • Ashkenazi Jewish ancestry
  • Preconception testing
  • Early pregnancy, prior to 16 weeks to allow time for prenatal testing if desired
  • Spouse is known carrier of an Ashkenazi Jewish disease
  • Family history of known Ashkenazi Jewish disease, provide disease and mutation if known

Sample Requirements: 5-7 mL whole blood in purple top (EDTA) tube

Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].

Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134

For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.

Turn Around Time: 7-14 days

Cost/CPT codes: $1702.79 / 83890, 83900, 83901(x17), 83896(x41), 83908, 83912

Please submit a completed Prenatal Testing Requisition for each sample.