Distal Arthrogryposis Panel
Use
The Distal Arthrogryposis Panel is intended for individuals with clinical or suspected diagnosis of distal arthrogryposis syndromes and for those with a family history of distal arthrogryposis without previous genetic testing. This test can aid in confirming a diagnosis, guiding prognosis, and assisting in family planning through identification of genetic causes related to distal arthrogryposis.
Special Instructions
This panel requires a standard requisition form and is advised for patients with relevant clinical features. STAT testing is available with a surcharge, and testing can be included as part of family testing options with duo or trio analysis. Exome-wide CNV analysis can be added for an additional cost.
Limitations
The test is limited to the panel of 12 genes associated with distal arthrogryposis and related syndromes. Potential limitations include inability to detect all mutations such as deep intronic variants and copy number variations outside of the targeted regions. Turnaround times can be extended if samples are not submitted in optimal conditions or if testing requires additional reflexive analyses.
New York Approved
Methodology
NGS (Targeted)
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