Infantile Myofibromatosis Panel
Use
This test is designed for individuals with relevant features who have a clinical or suspected diagnosis of infantile myofibromatosis. It is also indicated for individuals with tumor onset during the first two years of life, recurrent myofibromas, or a family member with presumed infantile myofibromatosis without previous genetic testing. Additionally, it is suitable for individuals without access to specific variant information for a genetically-confirmed family member with infantile myofibromatosis.
Special Instructions
Not provided.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration. False negatives can occur, and not all mutations in the two genes associated with infantile myofibromatosis may be detectable with this panel. Results should be interpreted in conjunction with clinical findings and other relevant data.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
PDGFRB, NOTCH3
Gene
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
Container
Blood Tube