Invitae Hereditary Spastic Paraplegia Comprehensive Panel
Use
The Invitae Hereditary Spastic Paraplegia Comprehensive Panel analyzes genes associated with hereditary spastic paraplegia (HSP), a clinically and genetically heterogeneous group of neurological conditions characterized by lower-extremity spastic weakness. These genes were curated based on currently available evidence to provide a comprehensive test for the genetic causes of HSP. Identification of the underlying genetic cause 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.
Special Instructions
You can customize this test by clicking genes to remove them. The test includes up to 78 genes, consisting of a primary panel of 62 genes and an option to add 16 preliminary-evidence genes.
Limitations
This assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions, and deletions <15bp in length, and exon-level deletions and duplications. Invitae’s methods also detect larger insertions and deletions, but sensitivity may be reduced. Certain variants, such as structural rearrangements, or variants in complex regions, may not be detected. Some variant details, like mosaicism or phasing, may not be fully resolved. Coverage excludes sequence changes in promoter and non-coding regions unless specified.
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)