Invitae Familial Dysautonomia Test
Use
The Invitae Familial Dysautonomia Test is designed to identify pathogenic variants in the ELP1 gene, which are known to cause familial dysautonomia (FD). FD is a developmental disorder affecting the sensory and autonomic nervous systems. Identifying the genetic cause can help direct medical treatment, predict patient outcomes, and clarify recurrence risk.
Special Instructions
This test requires a sample of whole blood in a purple-top EDTA tube. Alternate specimens such as saliva, buccal swab, and gDNA are also accepted. The test is performed at a CLIA-certified laboratory, ensuring high diagnostic accuracy.
Limitations
This test may not detect structural rearrangements or variants embedded in complex sequence architectures. Some non-coding regions and specific types of variants may also not be covered by this assay. Additionally, rare single-exon copy number events and certain insertion/deletion sizes may not be thoroughly analyzed due to technical limitations.
New York Approved
Methodology
NGS
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)