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Facioscapulohumeral Muscular Dystropy (FSHD) – D4Z4 repeat deletion#

Contact lab prior to sending.

Evidence of neurology counselling and genetic consent form is required.

Requires patient informed consent

Sample Reqs



9 weeks

Special instructions

Clinical history must be provided.

# This test is referred to a specialist laboratory within our network of collaborators.

Sample type guide


Lavender Vacutainer, EDTA anticoagulant, 4ml/10ml(10ml EDTA tubes are used for specific PCR assays)