Invitae Hypophosphatemia Panel
Use
The Invitae Hypophosphatemia Panel is designed to evaluate genetic forms of hypophosphatemia, which are associated with abnormal phosphate levels leading to bone and dental growth abnormalities. This panel analyzes genes related to conditions such as X-linked hypophosphatemia and hypophosphatasia, providing a broad assessment for patients with hypophosphatemia. It enables diagnosis and management of hereditary conditions that affect phosphate metabolism.
Special Instructions
This test involves full-gene sequencing and deletion/duplication analysis using NGS technology. Genetic counseling is recommended to interpret results and implications. Contact client services for additional information or questions regarding this panel. Customization of the gene panel is possible.
Limitations
The test may not detect structural variants such as inversions, gene conversion events, or translocations. Certain sequence complexities may prevent detection of single-exon CNVs in rare cases. Regions not covered by the assay include certain non-coding regions and long insertions/deletions. Accuracy may vary with sequence complexity, and results should be interpreted in the context of clinical findings and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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)