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Athena #215 Complete SMA Evaluation (Reflexive)
Message"Profile is performed reflexively in the following order.
1. SMN1 Deletion
2. SMN1 Sequencing
3. SMARD & XLSMA
"
1. SMN1 Deletion
2. SMN1 Sequencing
3. SMARD & XLSMA
"
Test Code
215
CPT Codes
81401(1), 81405(1), 81479(1)
Includes
SMN DNA Sequencing Test, Spinal Muscular Atrophy Diagnostic Test, Spinal Muscular Atrophy with Respiratory Distress (SMARD) - IGHMBP2 DNA Sequencing Test, X-Linked Spinal Muscular Atrophy (XLSMA) - UBE1 DNA Sequencing Test
Preferred Specimen
whole Blood
Minimum Volume
2-4 mL
Other Acceptable Specimens
Yellow top (ACD-A or ACD-B)
Transport Container
Lavender top (EDTA)
Transport Temperature
room temp
Specimen Stability
Room temperature: 5 days; Refrigerated: 14 days
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
frozen
Methodology
DNA Sequencing and Dosage Analysis
Report Available
21-28 days
Reference Range
Normal: two deletions and no point mutations identified in SMN1, IGHMB2 or UBE1(exon 15)
Clinical Significance
"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.
Spinal muscular atrophy (SMA), Spinal muscular atrophy with Respiratory Distress, X-Linked Spinal Muscular Atrophy
"
Spinal muscular atrophy (SMA), Spinal muscular atrophy with Respiratory Distress, X-Linked Spinal Muscular Atrophy
"
