Fibrodysplasia Ossificans progressiva (FOP) via the ACVR1 Gene
Use
This test is designed for individuals who have clinical features suggestive of Fibrodysplasia Ossificans Progressiva (FOP) or have a suspected diagnosis. It is also applicable for family members of individuals carrying known pathogenic variants in the ACVR1 gene, which is associated with FOP. The test can aid in confirming a clinical diagnosis, identifying carriers among family members, and facilitating early intervention and management strategies in patients with FOP.
Special Instructions
The test employs NGS with CNV on either the Exome or Genome platform, depending on the sample type and specific case requirement. Different specimen types are acceptable based on the selected platform: Exome platform accepts blood, DNA, buccal swabs, saliva, and tissue, while Genome platform accepts blood and DNA. The test is New York approved, enhancing its accessibility in different regions.
Limitations
This genetic test may not detect all possible variants in the ACVR1 gene, particularly those occurring in low-coverage regions or involving complex structural variations beyond the detection capabilities of NGS. There is also a risk for false negatives, especially in cases with insufficient DNA quality or sample contamination. Additionally, clinical interpretation relies heavily on the accurate submission of genetic and phenotypic information, necessitating thorough clinical documentation accompanying test orders.
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