Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene
Use
This test is intended for individuals with features suggestive of nemaline myopathy, demonstrated by the presence of type 1 fiber predominance and nemaline bodies upon muscle biopsy, or those with a single NEB gene variant identified via NGS-based testing. It also targets reproductive partners of individuals carrying a pathogenic NEB gene variant. Nemaline myopathy is characterized by muscle weakness, and its diagnosis may aid in the management and clinical decision-making for affected individuals.
Special Instructions
Test requires submission of detailed clinical information, including medical history, muscle biopsy results, or details of previously identified NEB variants via NGS testing. Coordination with genetic counseling services is advised for result interpretation and family planning decisions.
Limitations
The test is limited to the NEB gene and may not detect all causative variants of nemaline myopathy. Negative results do not rule out the disorder, as not all genetic causes are detectable. Variants of unknown significance may be identified and require further investigation. Incomplete penetrance and variable expressivity are possible, complicating prediction of phenotype.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided