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HelpNeonatal Hypotonia Panel (PWS/SMA/DMPK)
Collection Requirements
Source: blood
Container: EDTA lavender
Volume:
- Preferred: 3 mL in vacutainer
- Minimum: 1 mL in vacutainer
Turn Around Time
21 days
Availability
Routine
Lab Processing Instructions
Specimen: whole blood
Room temperature or refrigerate
Performing Laboratory
Adele Hall
Adele Hall Lab Section
Molecular Genetics
Instrumentation/Methodology
PWS: MS-MLPA (methylation sensitive multiple ligation probe assay) is used to detect copy number changes and methylation status of Chromosome 15 SMA: Multiplex ligation dependent probe amplifaction (MLPA) is used to detect copy number changes in the SMN1 and SMN2 genes. DMPK: PCR/fragment analysis
Reference Ranges
See interpretive report
CPT
PWS 81331 +
SMA 81400 +
DPMK 81234