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Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion

Contact lab prior to sending. Referrals only from consultant neurologist or clinical geneticist. Genetic consent form required.

Requires patient informed consent

Code

GENE

Sample Reqs

AAA [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

Updated Wednesday, 06 December 2023