High Bone Mass Panel by Massively Parallel Sequencing
Use
The High Bone Mass Panel is designed to assess 14 genes linked to increased bone mineral density, crucial for diagnosing conditions like craniometaphyseal dysplasia and osteopetrosis. Symptoms of these skeletal dysplasias can include elevated bone mass and abnormal skeletal growth, which may lead to vision and hearing issues. Interpretation of the genetic variants is key to understanding individual susceptibility and potential treatment options. Consultation with genetic counseling is advised to navigate the diagnostic process due to the complexities involved in evaluating genetic changes.
Special Instructions
Ordering the High Bone Mass Panel requires clinical justification for appropriate patient selection. It is advisable to consult a genetic counselor prior to testing to discuss the implications of results for both the patient and their family. This panel represents a comprehensive analysis and is a valuable resource for evaluating suspected skeletal dysplasias.
Limitations
Diagnostic interpretation may evolve as new data emerge. Risks such as sample mix-up and genetic variants leading to false interpretations persist, necessitating careful handling of samples. Genetic variants that disrupt analysis may not be detected, particularly in complex genomic regions. Contacting genetic counselors is recommended in case of suspected errors, as well as consideration of the limitations surrounding current genetic knowledge.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA (purple-top) tube
Collection Instructions
Draw blood in EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature.
Causes for Rejection
Sample received not at room temperature.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |