Spinal Muscular Atrophy
Test Information
Test Name
Spinal Muscular Atrophy
Synonyms
SMN1 genotyping; Motor neurone disease; Werdnig-Hoffman; Kugelberg-Welander
Preferred Specimen
EDTA x 2 (whole blood)
Testing Location
Referral
Turn Around Time
6 weeks
Collection Information
Preparation
- Diagnosis Paediatrics, Neurology or GHSNZ referral required
- Predictive/carrier testing GHSNZ referral required
Processing Information
Registration Code
SMAD
Notes
- DO NOT centrifuge; whole blood required
- DO NOT freeze
- DO NOT share sample; dedicated tube required
Methodology
Interpretations
View Interpretations
External Referral Information
Referral Location
LabPlus (via WHL)
Send Away Transport
Specimen delivery Ambient on day of collection. Refrigerate overnight or weekend then send ambient
External Lab Website