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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Hexosaminidase A & B Enzyme Analysis tests available.

HEX A Deficiency | Hexosaminidase A & B | Juvenile (Subacute) Hexosaminidase A Deficiency | Tay Sachs | GM2 Gangliosidosis (Hexosaminidase A- and B-Deficient) | Sandhoff Disease

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Enzyme Analysis Hexosaminidase A & B Enzyme Analysis
Test Code: 4569
Sequence Analysis HEXA Sequence Analysis
Test Code: 6925
HEXA Sequence Analysis
Test Code: 6926

This test can only be performed if there is a previously identified familial mutation.
HEXA Sequence Analysis
Test Code: 6927

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.

Hexosaminidase A & B Enzyme Analysis
Test Information: This test provides enzymatic analysis of Hexosaminidase A and B for the confirmation of clinical diagnosis of Tay Sachs and/or Sandhoff disease.
Test Details
Test Code: 4569
Technical Information
Methodology: Fluorimetric
Gene Name: HEXA, HEXB
Protein Name: Beta-hexosaminidase subunit alpha, Beta-hexosaminidase subunit beta
Test Type: Enzyme Analysis
References Values or Ranges: Tay Sachs Disease: 0-8% A
Sandhoff Disease: < 40 nmoles/hr/ml
Sample & Shipping Information
Test Requisition: Biochemical
Specimen Type: Serum
Requirements: Draw blood in a No Additive (red-top) or Serum Gel (red/gray-top) tube(s) and separate as soon as possible. Send 1-2 cc of serum. Store the specimen frozen at -20C.

Shipping Conditions: Ship frozen on dry ice in an insulated container by overnight courier.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 83080 x 1, 84157 x 1

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