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Lab Test Dictionary

Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood (NAGR)


Heat Inactivation/Fluorometric/Semiautomated

Specimen Type

Whole Blood

Performing Lab

Mayo Medical Lab

Epic ID

Other Reference Test

Lab Test Days


Standard TAT

4-8 Days

Collection Information

Specimen Required

5-6 mL Whole Blood

Container Type

Yellow (ACD), Solution B

Collection Instructions

Whole blood collected in an ACD Solution A (yellow-top) tube is also acceptable. Collect Monday-Thursday before 1300 only, no weekends or holidays. Include a completed Mayo Biochemical Genetics Patient Info form with specimen to lab.

Processing Information - Lab Use Only

Transport Temperature


Specimen Stability

Room Temp=6 Days; Refrigerated=6 Days; Frozen=Unacceptable

Rejection Criteria

Gross Hemolysis

Test Volume Required

6 mL Whole Blood

Minimum Test Volume

5 mL Whole Blood

Processing Instructions

Submit a completed Mayo Biochemical Genetics Patient Info form with specimen. Order in Mayolink and send with Mayo courier Monday-Thursday.


Insurance authorization is requires prior to draw for Outpatients. MJ approval required for Inpatients. Testing begins with hexosaminidase A and total enzyme analysis. If the results are consistent with an affected or carrier for Tay-Sachs disease or Sandhoff disease, next generation sequencing to detect single nucleotide and copy number variants for HEXA or HEXB, respectively, will automatically be performed on the original specimen.

CPT Codes

83080 (x2); 81406; 81479