Klippel-Feil Syndrome Panel
Use
The Klippel-Feil Syndrome Panel is designed for individuals with features suggestive of Klippel-Feil syndrome, those with a family member diagnosed with the syndrome, or individuals without access to specific genetic variant information of a family member. It is also applicable for reproductive partners of individuals with autosomal recessive Klippel-Feil syndrome. The test assists in confirming the diagnosis and informing future genetic counseling for affected individuals and their families.
Special Instructions
Ordering practitioners must ensure that necessary documentation and clinical information are provided to facilitate the genetic testing process. New York-approved test considerations may apply, and clinicians are advised to include comprehensive clinical notes, pedigrees, and relevant ICD-10 codes for insurance billing purposes.
Limitations
The Klippel-Feil Syndrome Panel may not detect all genetic variants relevant to the condition. Variants of uncertain significance may be identified, requiring further analysis. Mutations outside the target regions or within areas not covered by the panel may be missed. This test has not been cleared or approved by the US FDA, and results should be interpreted in conjunction with other clinical findings.
New York Approved
Methodology
NGS
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided