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

Use

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.

Limitations

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.

Methodology

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

Specimen

Whole blood

Volume

8 mL EDTA whole blood and 10 mL ACD whole blood

Minimum Volume

4 mL EDTA whole blood and 5 mL ACD whole blood

Container

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

Collection

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

Temperature

Period

Refrigerated

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.

Footnotes

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.

References

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

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511295 Jewish Ancestry Reprod Profile 481004 CF, Screen 21654-9
511295 Jewish Ancestry Reprod Profile 480565 Comment: N/A
511295 Jewish Ancestry Reprod Profile 481003 Cystic Fibrosis Profile N/A
511295 Jewish Ancestry Reprod Profile 511152 Canavan Disease, DNA 21081-5
511295 Jewish Ancestry Reprod Profile 511942 PDF 51969-4
511295 Jewish Ancestry Reprod Profile 511005 Jewish Heritage Putaway N/A
511295 Jewish Ancestry Reprod Profile 522247 Tay-Sachs Disease Leukocytes N/A
511295 Jewish Ancestry Reprod Profile 511247 % Hex A % 23825-3
511295 Jewish Ancestry Reprod Profile 511248 Total Activity nmol/hr/mg prot 24075-4
511295 Jewish Ancestry Reprod Profile 511249 Tot Act of Norm Ctrl nmol/hr/mg prot N/A
511295 Jewish Ancestry Reprod Profile 511250 Interpretation 53039-4
511295 Jewish Ancestry Reprod Profile 511252 Director Review 72486-4
511295 Jewish Ancestry Reprod Profile 510418 Methodology 49549-9

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The LOINC® codes are copyright © 1994-2017, Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. Permission is granted in perpetuity, without payment of license fees or royalties, to use, copy, or distribute the LOINC® codes for any commercial or non-commercial purpose, subject to the terms under the license agreement found at https://loinc.org/license/. Additional information regarding LOINC® codes can be found at LOINC.org, including the LOINC Manual, which can be downloaded at LOINC.org/downloads/files/LOINCManual.pdf