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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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SMN1/SMN2 Copy Number Analysis
Spinal Muscular Atrophy | Spinal Muscular Atrophy (SMN1) | Spinal Muscular Atrophy (SMN2) | SMA
Test Information: This is a Diagnostic Test
Test Details
Test Code: 6059
Test Includes: Multiplex Ligation-dependent Probe Amplification (MLPA) analysis is performed to determine copy number for the SMN1 and SMN2 genes. SMN2 copy number will be reported only for patients with zero copies of SMN1 detected, or for symptomatic individuals with one SMN1 copy.


Special Notes: The spinal muscular atrophy ("SMA") assay performed at Baylor Genetics is for the diagnostic evaluation of symptomatic individuals and does not detect carriers for SMA. Baylor Genetics does not provide SMA assays to diagnose patients who might be SMA carriers. For patients over the age of 10 yrs, an indication from a licensed physician or physician delegate MUST be provided stating the patient is symptomatic.

If a sample from a patient over the age of 10 years is submitted without a symptomatic indication or with no indication provided, the sample may be discarded by Baylor Genetics or may be returned to the referring center and/or physician. The referring center and/or physician will be responsible for the return shipping cost. Baylor Genetics is not responsible for delays in shipping or receipt of the returned sample.

Technical Information
Methodology: Multiplex Ligation-dependent Probe amplification(MLPA)
Gene Name: SMN1 & SMN2
Protein Name: Survival motor neuron protein
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: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81401x1


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