Invitae Congenital Myopathy Panel
Use
The Invitae Congenital Myopathy Panel analyzes genes associated with congenital myopathies, a heterogeneous group of neuromuscular conditions with variable symptom severity. Genetic testing with this panel can help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. These myopathies are inherited disorders that usually present between the neonatal period and early childhood, primarily exhibiting symptoms like hypotonia and muscle weakness. The severity and specific symptoms can vary depending on the causative gene.
Special Instructions
This panel can be customized by selecting specific genes to include or exclude based on clinical relevance. It is useful for individuals with congenital myopathies and related symptoms such as abnormal muscle biopsy, proximal muscle weakness and/or atrophy, and abnormal EMG showing myopathic changes.
Limitations
This panel uses NGS technology to analyze clinically important regions of each gene, including coding exons and adjacent intronic sequences. However, it does not guarantee analysis of promoter regions, non-coding exons, or regions with complex sequence architectures such as tandem repeats. Variants like structural rearrangements and those embedded in complex sequence regions may not be detected. Results can be affected by circulating hematolymphoid neoplasm, bone marrow transplants, or recent blood transfusions.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)