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Repeat-panel-anaylses

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The MGZ provides for myopathies and ataxia repeat-panel-analyses. With these panels 23 different movement disorders and seven myopathies can be diagnosed.

EXEMPLARY INDICATIONS
• Diagnosis of CANVAS based on expansion and sequence changes in the RFC1 locus
• Simultaneous assessment of repeat length and methylation status of the FMR1 locus for better risk assessment in Fragile X syndrome

METHOD
• Targeted-enriched long-read sequencing

SAMPLE REQUIREMENTS
• EDTA blood

 

PRICE INQUIRIES & TEST ORDERING

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