The MGZ provides different methods for the diagnosis of facioscapulohumeral muscular dystrophy (FSHD) and the differentiation between FSHD1 and FSDH2.
• Evaluation of permissive haplotype
• Methylation profile analysis
• NGS gene sequencing of epigenetic suppressor genes
• Optical genome mapping
• EDTA blood
• For optical genome mapping: fresh EDTA-blood;specific shipment instructions apply
PRICE INQUIRIES & TEST ORDERING
To request price information:
- Request a cost statement by using our convenient contact form.
For detailed test ordering information:
- Please refer to the How to Order section of our website.
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