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Beyond Exome

FSHD testing

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The MGZ provides different methods for the diagnosis of facioscapulohumeral muscular dystrophy (FSHD) and the differentiation between FSHD1 and FSDH2.

METHOD
• Evaluation of permissive haplotype
• Methylation profile analysis
• NGS gene sequencing of epigenetic suppressor genes
• Optical genome mapping

SAMPLE REQUIREMENTS

• EDTA blood
• For optical genome mapping: fresh EDTA-blood;specific shipment instructions apply

 

PRICE INQUIRIES & TEST ORDERING

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For detailed test ordering information:

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