Jewish Ancestry Reproductive Profile

CPT: 81200; 81220; 83080
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Test Details

Test Includes

Canavan disease, DNA analysis; cystic fibrosis profile, DNA analysis; Tay-Sachs disease, biochemical, leukocytes


Identification of carriers for Jewish heritage diseases, specifically Canavan disease,1,2 cystic fibrosis,3,4 and Tay-Sachs disease.5 See Related Information for individual components of this profile.


This test is not appropriate for non-Ashkenazi Jewish individuals. This assay may not detect patients or carriers of rare variants of Tay-Sachs disease such as the B-1 variant or the activator protein deficiency.


Polymerase chain reaction (PCR) and oligonucleotide ligation (assay), and primer extension with flow-sorted bead array analysis; determination of beta-hexosaminidase A and B activity using heat inactivation

Specimen Requirements


Whole blood


8 mL EDTA whole blood and 10 mL ACD whole blood

Minimum Volume

4 mL EDTA whole blood and 5 mL ACD whole blood


Lavender-top (EDTA) tube and yellow-top (ACD) tube


Refrigerate yellow-top (ACD) tube after collection. Transport to testing facility using cool pack or LabCorp transport kit. Do not allow specimen to freeze. Sample in yellow-top (ACD) must arrive in the laboratory within four days of collection.

Storage Instructions

Refrigerate yellow-top tube. Maintain lavender-top tube at room temperature.

Stability Requirements




4 days

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; yellow-top (ACD) tube not received within four days of collection; improper container

Clinical Information

Special Instructions

Specimens must arrive in the lab within four days of collection. A completed Cystic Fibrosis Screening Questionnaire and a Tay-Sachs Disease Screening Questionnaire must accompany specimens. (See the Genetics Appendix online.) Call 800-345-4363 to request forms, or photocopy the forms from the Genetics Appendix.


1. American College of Medical Genetics. Position Statement on Carrier Testing for Canavan Disease. Bethesda, Md: ACMG; January 10, 1998.
2. American College of Obstetricians and Gynecologists. Screening for Canavan Disease. Technical Bulletin 212. Washington, DC: ACOG; November 1998.
3. Grody WW, Cutting GR, Klinger KW, et al. (Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Services Committee, ACMG). Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med. 2001 Mar-Apr; 3(2):149-154. 11280952
4. American College of Obstetricians and Gynecologists. Preconception and Prenatal Carrier Screening for Cystic Fibrosis: Clinical and Laboratory Guidelines. Washington, DC: ACOG; October 2001.
5. American College of Obstetricians and Gynecologists. Screening for Tay-Sachs Disease. Washington, DC: ACOG; November 1995.


American College of Obstetricians and Gynecologists Committee on Genetics. ACOG Committee Opinion N° 486: Update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011 Apr; 117(4):1028-1031. 21422883
Monaghan KG, Feldman GL, Palomaki GE, et al, and the Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan; 10(1):57-72. 18197058

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