Jewish Ancestry Reproductive Profile

TEST: 511295
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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

Turnaround time is defined as the usual number of days from the date of pickup of a specimen for testing to when the result is released to the ordering provider. In some cases, additional time should be allowed for additional confirmatory or additional reflex tests. Testing schedules may vary.

Related Information

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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