Familial Hypocalciuric Hypercalcemia (FHH) Panel
Use
The Familial Hypocalciuric Hypercalcemia (FHH) Panel is designed for individuals who show clinical or suspected signs of familial hypocalciuric hypercalcemia (FHH) and for those with elevated serum calcium levels and/or low urinary calcium excretion. The test is aimed at detecting genetic mutations associated with FHH, which can help in confirming the diagnosis and guiding the clinical management of patients with calcium metabolism disorders.
Special Instructions
The test can be ordered through exome or genome platforms, and specimens can include blood, DNA, buccal, saliva, or tissue depending on the platform selected. Turnaround time is typically 2 to 3 weeks, but a STAT option is available, which guarantees faster results within 7 to 16 days. The test is New York approved, and special ordering options such as exome-wide CNV analysis and reflexive testing are available to complement the panel.
Limitations
This panel is limited to detecting genetic alterations within the three genes associated with FHH. It may not detect all possible genetic mutations related to hypercalcemia disorders, particularly those not involving CNV or covered in the specific regions analyzed. Results should be interpreted in conjunction with clinical findings and additional biochemical tests. Moreover, this test has not been cleared or approved by the US Food and Drug Administration, although it meets regulatory standards set by CAP and CLIA.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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