Invitae Hereditary Multiple Osteochondromas Panel
Use
The Invitae Hereditary Multiple Osteochondromas Panel is used to analyze up to three genes associated with hereditary multiple osteochondromas (HMO), which involves the growth of multiple cartilage-capped bone growths. These growths usually occur in children and adolescents and may lead to secondary complications such as fractures or deformities. Genetic testing via this panel helps confirm diagnosis and guide treatment, management decisions, and genetic counseling. Identifying disease-causing variants meanwhile assists in recurrence-risk assessment.
Special Instructions
Not provided.
Limitations
The test primarily sequences clinically important regions, including coding exons and adjacent intronic sequences. It excludes coverage of sequence changes in promoters, non-coding exons, and other certain non-coding regions unless explicitly mentioned. The analysis detects both small (less than 15bp) and large insertions and deletions (less than a full exon) but might miss certain details such as structural rearrangements or variants in complex sequence architectures. Analysis can be affected by sample quality from entities such as hematolymphoid neoplasm, bone marrow transplant, or recent blood transfusion as it may not reflect the patient's constitutional genome.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
EXT1, EXT2, TRPS1
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