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 Interpretations

Contact 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