Invitae Hereditary Motor Neuropathy Panel
Use
The Invitae Hereditary Motor Neuropathy Panel analyzes genes associated with hereditary motor neuropathies (HMNs), a group of conditions characterized by the loss of motor neurons within the spinal cord, leading to weakness and muscle wasting. HMNs can also be referred to as spinal muscular atrophies (SMAs). Identification of the genetic cause can confirm a clinical diagnosis, predict disease prognosis, facilitate early detection of symptoms, and inform family planning or genetic counseling. This comprehensive test is based on current evidence and can aid in enrollment for clinical trials.
Special Instructions
The panel includes genes curated for hereditary motor neuropathies based on available evidence. Given the heterogeneity of the conditions included, the panel provides a broad genetic evaluation. For convenience, saliva, buccal swabs, and gDNA are accepted as alternate specimens to whole blood.
Limitations
The assay may not detect structural rearrangements, certain complex sequence variations, or single-exon copy number events due to technical limitations. In rare cases, the analyzed DNA may not represent the patient's constitutional genome due to conditions like hematolymphoid neoplasm or recent blood transfusion. The analysis focuses on coding exons and adjacent sequences, with some non-coding variants included; regions not covered will not be analyzed.
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)