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Specimen Collection

Facioscapulohumeral Muscular Dystrophy type 1


Test Name
Facioscapulohumeral Muscular Dystrophy type 1
Test Code
SAFSHD
Specimen Type

EDTA (Whole Blood - Do not spin)

Minimum Volume
5 mL
Comments

Test cost: $800

For RCH patients: authorisation for testing is required from Laboratory Services Genetic Review panel.

labservices.genetics@rch.org.au 

Results available after 6-8 weeks.


LABORATORY NOTES:

Store at 4C for up to 5 days post collection.


MBS item number
Non-MBS
Assay Performed
PathWest
Attn: Harmony Clayton/Mark Davis
C/- Specimen Reception,
Ground Floor, PP Block
QEII Medical Centre, Hospital Avenue
Nedlands, WA, 6009.


Alpha Tryptase (TPSAB1) copy number gene testing