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HelpTest ID BLOD1080 Spinal Muscular Atrophy by PCR
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
Methodology
PCR amplification of affected region, followed by restriction enzyme digestion to detect the deletion of SMN exon7
Performing Lab
St Francis Genetics
AKA
SMA
Werdnig-Hoffmann disease
Kugelberg-Welander disease
CPT
81329
Report Available
8 days
Interface Build Information
| Result Code | Result Code Description |
|---|---|
| 8063 | See Scanned Report |