Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion
Requires patient informed consent
Code
GENE
Sample Reqs
AA [9]
Turnaround
9 weeks
Special instructions
Contact lab prior to sending. Referrals only from consultant neurologist or clinical geneticist. Genetic consent form required.
[9] Clinical history must be provided.
Sample type guide
A
Lavender Vacutainer, EDTA anticoagulant, 4ml/6ml (6ml EDTA tubes are used for specific PCR assays)
Related specialties
Additional information
Updated Sunday, 07 December 2025