Tay Sachs Disease Enzyme Analysis (Hexosaminidase-A)

Abbrev Code:XMISC   
Order Code:LAB4909Order Name:Laboratory Miscellaneous Order
Synonyms:Hexosaminidase A; Hexos Testing
Methodology:Enzyme analysis
CPT Codes: 83080 x1
Test Includes:Identification of Tay-Sachs disease gene carriers and affected individuals 
Turnaround Time:Specimens are sent to the reference laboratory Mon-Fri before 1300; results are reported within 8-14 days.
Special Instructions:A completed patient questionnaire should accompany all samples.
Associated Links:


Collection Instructions

Optimal Volume:10 mL
Minimum\Peds Volume:5 mL
Container:Yellow (ACD, Solution A) tube available from laboratory
Alternate Containers: Purple (EDTA)
Causes for Rejection:Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; unlabeled or mislabeled specimen.

Processing and Shipping

Specimen Processing:10 mL whole blood; do not process. Store at refrigerated temperature.
Shipping Instructions:Ship refrigerated. Sample must be received at Integrated Genetics within 4 days of collection.
Test Performed at or Referral Lab Lab Sendouts  (LabCorp)
Referral Lab number:511246


Reference Range:

By report.


Limitations: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. 

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