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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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Kennedy Disease Repeat Expansion Analysis
Spinobulbar Muscular Atrophy | SBMA | X-Linked Spinal and Bulbar Muscular Atrophy | Kennedy's Disease
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing - for female relatives of affected individuals, Presymptomatic Testing - Known Familial Mutation(s)
Test Details
Test Code: 6037
Special Notes: The mutation responsible for SBMA is an unstable CAG trinucleotide repeat. Normal individuals have up to 34 repeats, while SBMA (KD) patients have 38 or more CAG repeats. Individuals with 35-37 CAG repeats are considered to have reduced penetrance alleles. The presence of a CAG expansion in the androgen receptor gene is virtually diagnostic of SBMA/KD.
Technical Information
Methodology: PCR
Gene Name: AR
Protein Name: Androgen receptor
Test Type: Repeat Expansion 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: 81401x1


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