Medical Genetics Test Details
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|SMN1 Deletion Analysis
Spinal Muscular Atrophy | Spinal Muscular Atrophy (SMN1) | SMA
|Test Information:||This is a Diagnostic Test and does NOT detect Carriers, Presymptomatic Testing|
PCR amplification is performed on exon 7 and exon 8 sequences from the SMN1 gene and the homologous copy gene, followed by restriction digestion of the exon 7 and 8 PCR products of the copy gene with Dral and Ddel. The undigested PCR products of the SMN1 gene are separated from the digested products of the copy gene by agarose gel electrophoresis. |
The spinal muscular atrophy ("SMA") assay performed at BCM-Medical Genetics Laboratories is for the diagnostic evaluation of symptomatic individuals and does not detect carriers for SMA. BCM-MGL 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 BCM-MGL 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. BCM-Medical Genetics Laboratories is not responsible for delays in shipping or receipt of the returned sample.
|Methodology:||PCR-amplification followed by gel electrophoresis
|Gene Name:||SMN1 (SMNt)|
|Protein Name:||Survival motor neuron protein|
|Sample & Shipping Information|
|Test Requisition:||Molecular Diagnostics|
|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|
|List Price:||*For Insurance or Institutional Prices, please call.|