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Jewish Ancestry Reproductive Profile
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
8 mL EDTA whole blood and 10 mL ACD whole blood
4 mL EDTA whole blood and 5 mL ACD whole blood
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.
Refrigerate yellow-top tube. Maintain lavender-top tube at room temperature.
Causes for Rejection
Frozen specimen; hemolysis; quantity not sufficient for analysis; yellow-top (ACD) tube not received within four days of collection; improper container
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.
|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||51969-4|
|511295||Jewish Ancestry Reprod Profile||511152||Canavan Disease, DNA||21081-5|
|511295||Jewish Ancestry Reprod Profile||511942||51969-4|
|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|