Clinical Utilities
If this testing was ordered for diagnostic purposes and this patient shows symptoms of infantile or juvenile onset Tay-Sachs disease (not adult onset), consider ordering MML 80350 to rule out rare B1 variant of Tay-Sachs disease. Rare variants of hexosaminidase deficiency may not give results expected for Tay-Sachs disease. If a Tay-Sachs questionnaire accompanies all samples submitted for carrier or homozygote detection, the possibility of missing these rare forms will be minimized.

CPT Codes
Hexosaminidase A and Total, Leukocytes/Molecular Reflex" 83080/x2 "Tay-Sachs Disease, Mutation Analysis, HEXA" 83890/Molecular isolation or extraction (if appropriate) 83892/Enzymatic digestion (if appropriate) 83896/x7 Nucleic acid probe, each (if appropriate) 83900/Amplification, target, multiplex, first 2 nucleic acid sequences (if appropriate) 83909/Separation and identification by high-resolution technique (if appropriate) 83912/Interpretation and report (if appropriate) 83914/x7 Mutation identification by enzymatic ligation or primer extension, single segment, each segment (if appropriate)

The CPT codes provided are based on AMA guidelines
and are for informational purposes only. CPT coding is the
sole responsibility of the billing party. Please direct any questions
regarding coding to the payer being billed.

Reference Range

Component Information

Name		HEXOSAMINIDASE TOTAL
Method
CPT Code		83080
Units		U/g
Ref Range		16.4 - 36.2 U/g of cellular protein
Reflex Reason

Name		HEXOSAMINIDASE A
Method
CPT Code		83080
Units		%
Ref Range		63 - 75% of total
Reflex Reason

Collection Notes

Additional Comments