Optic Atrophy and Hereditary Spastic Paraplegia via the SPG7 Gene
Use
This test is for individuals with clinical or suspected diagnosis of optic atrophy or hereditary spastic paraplegia. It is also relevant for reproductive partners of individuals with a known pathogenic variant in the SPG7 gene.
Special Instructions
The test uses an NGS with CNV approach available on Exome or Genome platforms. Exome-wide CNV analysis is available for an additional fee. STAT testing adds a surcharge unless delays occur.
Limitations
Results are influenced by the quality of the clinical information provided. Tests are developed and validated per CAP and CLIA regulations but not cleared or approved by the US FDA. These technical limitations should be considered when interpreting the results.
New York Approved
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