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: Hexosaminidase A Gene Mutation Analysis, Whole Blood

Published: August 9, 2026Updated: August 16, 2026

: This test analyzes the HEXA gene from a whole blood sample to look for mutations associated with Tay-Sachs disease and related hexosaminidase A disorders.

Quick summary

[": Genetic testing of the HEXA gene can help identify carriers or confirm a diagnosis when hexosaminidase A activity is abnormal."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
38900-7
Short code
HEXA gene Mut Tested Bld/T
Synonyms
HEXA gene Mut Tested Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

: What Is Being Tested

: Hexosaminidase A gene testing may be ordered when enzyme activity testing is abnormal, when there is a family history of Tay-Sachs disease, or for carrier screening in certain populations.

: Why Your Doctor Ordered It

: Hexosaminidase A gene testing may be ordered when enzyme activity testing is abnormal, when there is a family history of Tay-Sachs disease, or for carrier screening in certain populations.

: How the Sample Is Collected

: A whole blood sample is collected from a vein, usually in the arm, and sent to a specialized genetics laboratory for analysis.

: What the Results Mean

: Results describe whether a mutation was or was not detected in the HEXA gene. Your healthcare provider will interpret results together with enzyme testing, family history, and other clinical information, since genetic results can be complex.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

: Mutations in the HEXA gene can cause Tay-Sachs disease or other hexosaminidase A deficiencies. Genetic testing helps clarify carrier status and support diagnosis, but results should always be interpreted by a qualified clinician or genetic counselor in the context of the full clinical picture.

Short name

: HEXA Mutation Testing

Frequently asked questions

: Does this test tell me my enzyme level?
: No. This test looks at the DNA sequence of the HEXA gene, not the amount or activity of the enzyme. Enzyme activity is measured by a separate biochemical test.
: Can this test tell me if I am a carrier?
: It can detect many known HEXA mutations and may help determine carrier status, but no test detects every possible mutation. A genetic counselor can explain what a result means for you and your family.
: Do I need genetic counseling?
: Genetic counseling is strongly recommended before and after this test so you understand the possible results, their implications for family members, and any follow-up testing that may be needed.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy