Canavan disease, DNA analysis; cystic fibrosis profile, DNA analysis; Tay-Sachs disease, biochemical, leukocytes
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.
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.
For more information, please view the literature below.
8 mL EDTA whole blood and 10 mL ACD whole blood
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.
Refrigerate yellow-top tube. Maintain lavender-top tube at room temperature.
Frozen specimen; hemolysis; quantity not sufficient for analysis; yellow-top (ACD) tube not received within four days of collection; improper container
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
|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 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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