Skip to content

Genetic sequencing of hexosaminidase A and B (hexosaminidase enzyme activity profile)

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

This test measures the activity levels of two enzymes, hexosaminidase A and B, which are involved in breaking down certain sugars in your body. It helps diagnose conditions like Tay-Sachs disease.

Quick summary

["This test can help identify genetic disorders affecting enzyme function."]

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

Key facts at a glance

LOINC
76033-0
Short code
HEXA gene Full Mut Anl Bld/T Seq
Synonyms
HEXA gene Full Mut Anl Bld/T Seq
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
sequencing
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

Why This Test Is Done

Your healthcare provider may recommend this test if you or a family member has symptoms of a genetic disorder, such as developmental delays, muscle weakness, or vision problems. It’s also used in prenatal screening or genetic counseling for families with a history of Tay-Sachs disease or similar conditions.

What to Expect Before the Test

No special preparation is needed for this test. A small blood sample will be taken, usually from your arm, similar to a regular blood draw. The sample is then sent to a lab for genetic sequencing.

What the Test Results Mean

The test looks for mutations in the HEXA gene, which codes for hexosaminidase A. Abnormal results may indicate inherited enzyme deficiencies linked to conditions like Tay-Sachs disease. Your healthcare provider will discuss the results in detail with you.

Common Conditions Linked to This Test

Tay-Sachs disease is the most well-known condition associated with hexosaminidase deficiency. Other rare genetic disorders may also be detected through this testing, though they are less common.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: This test is primarily used for genetic screening and diagnosis in individuals or families at risk for enzyme storage disorders. Early detection can guide treatment planning, support, and management strategies.

Short name

Hexosaminidase Enzyme Levels (Genetic Test)

Frequently asked questions

What symptoms might lead to this test?
Symptoms such as developmental delays, vision loss, hearing difficulties, or muscle weakness in infants and children may prompt this test, especially if there’s a family history of similar conditions.
Is this test painful?
The blood draw is generally mild discomfort, similar to other routine blood tests. Most people find it tolerable, and the process takes a few minutes.
Can this test be done during pregnancy?
Yes, prenatal genetic testing (like this one) may be offered to couples with a family history of Tay-Sachs or other genetic disorders to assess risk for the baby.
  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