Ashkenazi Jewish Disease Targeted Sequence Analysis Panel

The Ashkenazi Jewish Disease Targeted Sequence Analysis 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 are included in this panel and are analyzed by sequencing. The chart below shows the disorder, carrier frequency and detection rate of the targeted sequencing analysis. 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 or need to have the entire panel.

This same targeted sequence analysis can be used as diagnostic testing for many of the diseases on this list to confirm a suspected diagnosis.

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

Ashkenazi Jewish Disease Carrier frequency Detection rate
Tay Sachs Disease 1 in 31 98%
Canavan Disease 1 in 48 99%
Familial Dysautonomia 1 in 31 >99%
Bloom syndrome 1 in 107 >99%
Fanconi Anemia, group C 1 in 89 99%
Gaucher Disease 1 in 18 95%
Mucolipidosis, type IV 1 in 122 95%
Niemann Pick Disease 1 in 90 94%

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
  • Suspected clinical diagnosis of an individual disorder
  • 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 morning  at the latest].

    Shipping Address:

    Center for Human Genetics Laboratory
    10524 Euclid Ave, 6th Floor
    Cleveland, OH 44106

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

    Turn Around Time:

    Fifteen(15) days

    Cost/CPT Codes*:

    Individual test cost and CPT codes: BLOOM SYNDROME: $237.48 / 81209 CANAVAN DISEASE: $354.91 / 81200 FAMILIAL DYSAUTONOMIA: $266.18 / 81260 FANCONI ANEMIA TYPE C: $237.48 / 81242 GAUCHER DISEASE: $383.61 / 81251 MUCOLIPIDOSIS TYPE 4: $251.83 / 81290 NIEMANN-PICK DISEASE: $383.61 / 81330 TAY-SACHS DISEASE: $443.64 / 81255 * price and CPT codes will be adjusted to reflect number of tests ordered if ordered individually

    Please submit a completed Prenatal and Postnatal Cytogenetics and Molecular specimens requisition for each sample.

    Make an Appointment

    Schedule your appointment with a specialist at University Hospitals.
    1-866-UH4-CARE (1-866-844-2273)

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