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
Not provided.
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
ELP1
Gene
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)
Other tests from different labs that may be relevant