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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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Canavan Disease Ashkenazic Mutation Panel
Aspa Deficiency | Aspartoacylase Deficiency
Test Information: Confirmation of Clinical Diagnosis, Carrier Risk Assessment- Selected Ethnic Population
Test Details
Test Code: 6070
Test Includes: c.693C>A (p.Y231X), c.854A>C (p.E285A), c.914C>A (p.A305E)

Special Notes: ~98% Detection rate in the Ashkenazic Jewish population. This test is available as part of the Ashkenazic Genetic Disease Panel (#6001), which also includes selected mutation(s) analysis for Tay-Sachs Disease, Cystic Fibrosis, and Familial Dysautonomia.
Technical Information
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry.
Gene Name: ASPA
Protein Name: Aspartoacylase
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: 81200x1


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