Jewish Ancestry Reproductive Profile

CPT: 81200; 81220; 83080
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Test Includes

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


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.


Expected Turnaround Time

9 - 15 days



Related Documents

For more information, please view the literature below.

CFTR-Related Disorders: CF and CBAVD Full Gene Sequencing


    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


    Test Details


    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


    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: 77202-0
    511295 Jewish Ancestry Reprod Profile 511943 PDF 51969-4
    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 511247 % Hex A % 23825-3
    511295 Jewish Ancestry Reprod Profile 511248 Total Activity nmol/hr/mg prt 24075-4
    511295 Jewish Ancestry Reprod Profile 511249 Tot Act of Norm Ctrl nmol/hr/mg prt 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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