The NMRD provides expert diagnostics for neuromuscular diseases based on:

· Morphological screening of patient's biopsy samples
· Histology
· Immunohistochemistry
· Electron microscopy
· Biochemistry (mitochondrial respiratory chain enzymes)
· Protein based analysis (Western Blot)
· Expression assays at the RNA level
· Nucleic acid analytics
· Southern Blot
· Pulsed-field gel electrophoresis
· PCR/long-range PCR/real-time PCR
· High-resolution melting (HRM) analysis
· DNA Sequencing
· Next-generation DNA Sequencing
· Whole-exome sequencing
· Whole-genome sequencing

Owing to the uniqueness of each diagnostic case,
at the NMRD we often develop a highly individualized approach to reach a final diagnosis.

Currently, we offer diagnostic services including tests established

· for more than 110 genes covering more than 200 diseases (more...)

· for screening disease-associated genes using "whole-exome-sequencing"

· for complete sequencing of mitochondrial DNA for testing
more than 30 diseases caused by mitochondrial genome mutations (more...)

External Quality Assessment (EQA)

The NMRD diagnostic lab is member of the EMQN (European Molecular Genetics Quality Network)
and has been successfully participating in all relevant disease- and technique-specific schemes since 2011.

Further, in collaboration with other human genetic centres our lab established additional quality measurement activities:

Genetic testing of LGMDs (CAPN3, DYSF, FKRP genes):
Department of Human Genetics, Biozentrum, University of Wuerzburg, Wuerzburg, Germany

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