skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Tay-Sachs Disease Ashkenazic Mutation Panel
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

Return to test index