Spinal Muscular Atrophy
Test Information
Test Name
Spinal Muscular Atrophy
Synonyms
SMA; 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 InterpretationsContact Information
laura.yau@pathlab.co.nz
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