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Lab Test Dictionary

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

Methodology

Heat Inactivation/Fluorometric/Semiautomated

Specimen Type

Whole Blood

Performing Lab

Mayo Medical Lab

Epic ID

Other Reference Test

Lab Test Days

Monday-Saturdya

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

Refrigerate-OK/Ambient-OK

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.

Comments

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.