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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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Niemann-Pick Disease Type A Ashkenazic Mutation Panel
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing, Mutation Testing - General Population
Test Details
Test Code: 6047
Test Includes: c.911T>C (p.L304P or p.L302P), c.996delC (p.F333fs or fsP330), c.1493G>T (p.R498L or p.R496L)

Special Notes: Acid Sphingomyelinase Enzyme Assay (#4608) is also available for Nieman-Pick Disease testing.
Technical Information
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry
Gene Name: SMPD1
Protein Name: Sphingomyelin phosphodiesterase
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: 81330x1


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