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Spinal Muscular Atrophy


Gene Reviews

Spinal muscular atrophy is characterized by progressive muscle weakness caused by the degeneration of lower motor neurons that are responsible for controlling voluntary muscle movement including walking, crawling, swallowing, and head and neck control. Age of onset ranges from before birth to adolescence or young adulthood. The most common type of SMA is associated with respiratory failure and death before the age of two.

SMA is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle atrophy.

Methodology: PCR, Enzyme digestion--Deletion/Duplication analysis exon 7

Purpose: Confirmation of Clinical Diagnosis

ICD-10 Code G12.0 or H12.9

Test Requisition: Molecular Requisition

Specimen Requirements: 2-5 mL Blood- Lavender Top Tube

CPT Code: 81400 Cost: $407.00 (Oklahoma Medicaid requires preauthorization for this test)

Turn-around-time: 21 days

Shipping Information

This assay does not detect carriers. These tests were developed and their performance determined by this laboratory. They have not been cleared or approved by the U.S. Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. This assay is intended for clinical use.



Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li

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