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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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Familial Dysautonomia Ashkenazic Mutation Panel
Riley-Day Syndrome | HSAN III | Hereditary Sensory and Autonomic Neuropathy Type III | FD
Test Information: Confirmation of Clinical Diagnosis,Carrier Testing - Known Familial Mutation(s), Carrier Risk Assessment- General Population or Selected Ethnic Population (Ashkenazi Jewish descent)
Test Details
Test Code: 6030
Test Includes: c.2087G>A (p.R696P), c.2204+6T>C

Special Notes: ~99 % Detection rate in the Ashkenazi 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 Canavan Disease.
Technical Information
Methodology: Allele-specific genotyping by MALDI-TOF mass spectrometry..
Gene Name: IKBKAP
Protein Name: Elongator complex protein 1
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: 81260x1

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