Ordering Recommendation

Carrier screening or diagnostic testing for Tay-Sachs disease in individuals of Ashkenazi Jewish or French-Canadian descent.




Polymerase Chain Reaction/Fluorescence Monitoring


Tue, Fri


5-10 days

New York DOH Approval Status

This test is New York DOH approved.

Specimen Required

Patient Preparation

Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature


Unacceptable Conditions

Specimens collected in sodium heparin or lithium heparin tubes. Frozen specimens in glass collection tubes.


Ambient: 72 hours; Refrigerated: 1 week; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background information for Tay-Sachs Disease (HEXA), 7 Variants:
Tay-Sachs disease is a lysosomal storage disease that, in the most severe childhood-onset form, leads to a loss of motor skills beginning at 3- to 6-months of age and progresses to blindness, seizures, total incapacitation, and eventual death by 4 years of age. Adult-onset Tay-Sachs is a milder disease with later onset and slower progression. In adults, Tay-Sachs disease is associated with variable neurological findings, including progressive dystonia, spinocerebellar degeneration, motor neuron disease, and bipolar form of psychosis.
1 in 3000 Ashkenazi Jewish individuals.
Autosomal recessive.
HEXA gene pathogenic variants.
Variants Tested:
Four pathogenic 7.6kb del, c.1073+1G>A, p.Y427Ifs (c.1274_1277dup TATC), c.1421+1G>C; one mild pathogenic p.G269S (c.805G>A); and two pseudodeficiency alleles p.R247W (c.739C>T) and p.R249W (c.745C>T).
Clinical Sensitivity:
94 percent in Ashkenazi Jewish individuals, 59 percent in other ethnicities.
Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity:
Greater than 99 percent.
HEXA variants other than those specified above will not be detected. Diagnostic errors can occur due to rare sequence variations.

This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Compliance Category

Laboratory Developed Test (LDT)


Hotline History


CPT Codes



Component Test Code* Component Chart Name LOINC
0051430 Tay-Sachs Disease (HEXA), Allele 1 38900-7
0051431 Tay-Sachs Disease (HEXA), Allele 2 38900-7
0051432 Tay-Sachs Disease (HEXA), Interpretation 51773-0
2001315 Tay-Sachs Disease (HEXA), Specimen 31208-2
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.


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Tay-Sachs Disease (HEXA), 7 Variants