CoGenesis® Myopathy

Discover the cause of Myopathy

Myopathies are neuromuscular conditions, commonly with symptoms of muscle weakness, muscle cramps, stiffness, or spasm. The cause of neuromuscular disorders can be either inherited or acquired. A comprehensive genetic test for myopathy identifies the possible genetic condition of unspecified causes of morbidity.
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About CoGenesis® Myopathy

Screening of

108

neuromuscular disease genes in one test
Associated with

108

neuromuscular diseases
Accurate diagnosis in just

6 weeks

Developmental delay as a disease signal

Many congenital neuromuscular conditions are onset in childhood, for example, Duchenne Muscular Dystrophy (DMD) and Congenital Muscular Dystrophy (CMD). Early symptoms in children with neuromuscular diseases, such as poor balance and poor gross motor skills, may be perceived as a developmental delay at first.

Fast and accurate confirmatory diagnosis of disease

By integrating genetic and clinical information, our tests speed up medical diagnosis for unexplained neuromuscular symptoms.

Plan for your life and your family

You may then identify carriers in your family and make decisions about family planning.

The process

1

Order and receive a saliva collection kit.

2

Register the sample collection tube barcode online, then take a sample.

3

Mail the kit back to Codex’s laboratory for analysis.

4

Results are provided to you securely on the codex website within six weeks from receipt of sample.

A high accuracy standard

Steps Accuracy
DNA sequencing 99.9%
Variant calling – SNP >99%*
Variant calling – Indel >99%*
Variant Annotation 100%#

* Passed GenQA/UK NEQAS external quality assurance

# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.

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