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HelpTest ID BLOD1080 Spinal Muscular Atrophy by PCR
AKA
SMA
Werdnig-Hoffmann disease
Kugelberg-Welander disease
Specimen Type/Requirements
Lavender top (EDTA) - Whole blood
No Saturday delivery; Store specimen refrigerated and ship on Monday.
Saint Francis Genetic Consent Form is required.
Test is not affected by hemolysis or lipemia.
Specimen Volume
| Preferred Volume | 10.0 mL |
|---|---|
| Minimum Volume | 1.0 mL |
Stability/Transport
| Room Temperature | 7 days | preferred for transport |
|---|---|---|
| Refrigerated | 14 days | |
| Frozen | not acceptable |
Performed Test Frequency
Monday through Sunday
Report Available
8 days
Methodology
PCR amplification of affected region, followed by restriction enzyme digestion to detect the deletion of SMN exon7
Performing Lab
St Francis Genetics
CPT
81329
Interface Build Information
| Result Code | Result Code Description |
|---|---|
| 8063 | See Scanned Report |