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

AAA [9]


9 weeks

Special instructions

[9] Clinical history must be provided.

Sample type guide


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

See the Sample Requirements page for an explanation of all the sample requirements.

See the Special Instructions Legend page for a full list of special instructions.

Last-updated: 22/12/2021


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