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Laboratory Test Reference Guide

Laboratory Information

Test Name

Spinal muscular atrophy

Synonyms

SMA
SMN1 Genotyping

Specimen Collection

Pre Testing Requirements

1. Diagnosis Paediatrics, Neurology or GHSNZ referral.

2. Predictive/carrier testing GHSNZ referral

Adult Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Paediatric Specimen

4 ml EDTA (Purple) Whole blood. Do not centrifuge or freeze.

Sample Delivery to Lab

Ambient on day of collection. Refrigerate overnight or weekend then send ambient.

Test Information

Department

Sendaway - Cytogenetics

Additional Information

Genetic Health Service Contact Details

LabPlus Test Information

SMN1 and SMN2 MLPA analysis Wellington Regional Genetics

Minimum Volume

4 ml EDTA. Paediatric 1 ml EDTA

Electronic Information

Registration Code

SPMA

HL7 mapping code

$SPMA

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