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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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Tay-Sachs Disease Ashkenazic Mutation Panel
Hexosaminidase A Deficiency | GM2 Gangliosidoses (Hexosaminidase A-Deficient) | HEX A Deficiency
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6066
Test Includes: c.805G>A (p.G269S, mild), c.1278insTATC (p.Y427fs), c.1421+1G>C

Special Notes: Detection rates in the Askenazi Jewish population: approximately 94% DNA analysis only and 98% when DNA analysis is combined with Hexosaminidase A and B Enzyme Analysis (#4569).

Technical Information
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry
Gene Name: HEXA
Protein Name: Beta-hexosaminidase alpha chain
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81255x1


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