Tay-Sachs Disease (HEXA), 7 Variants

0051428
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Example Reports
Negative
Positive Benign
Positive Pathogenic

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Additional Technical Information
Ordering Recommendation

Confirm common pathogenic and pseudodeficiency HEXA variants in individuals of Ashkenazi Jewish and French-Canadian descent with abnormal levels of HexA enzyme. For initial testing of Tay-Sachs disease, refer to Hexosaminidase A percent and Total Hexosaminidase in Leukocytes (2008125).

Mnemonic
HEXA
Methodology

Polymerase Chain Reaction/Fluorescence Monitoring

Performed

Tue, Fri

Reported

5-10 days

New York DOH Approval Status
This test is New York DOH approved.
Specimen Required
Patient Preparation
Collect

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

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions

Specimens collected in sodium heparin or lithium heparin tubes.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: 1 month

Reference Interval

By report

Interpretive Data

Background information for Tay-Sachs Disease (HEXA), 7 Variants:
Characteristics: 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.
Incidence: 1 in 3000 Ashkenazi Jewish individuals.
Inheritance: Autosomal recessive.
Cause: 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.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: HEXA variants other than those specified above will not be detected. Diagnostic errors can occur due to rare sequence variations.

Compliance Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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

Note
Hotline History
N/A
CPT Codes

81255

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Components
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.
Aliases
  • Hexosaminidase A
  • Hexosaminidase A Deficiency DNA assay
  • TSD molecular assay
Tay-Sachs Disease (HEXA), 7 Variants