Hypoparathyroidism Panel
Use
This test is intended for individuals who exhibit symptoms or have a suspected clinical diagnosis of hypoparathyroidism. Specifically, it is beneficial for those presenting with hypocalcemia and/or hyperphosphatemia. The panel aids in the confirmation of diagnosis and guides clinical management by determining genetic variants associated with hypoparathyroidism.
Special Instructions
The panel utilizes Next-Generation Sequencing (NGS) with CNV capabilities on an Exome or Genome platform, ensuring comprehensive coverage of the relevant genes. STAT testing is available and may expedite results, subject to additional fees. Collaboration with healthcare providers is essential to ensure accurate interpretation of test results, taking into account clinical details and family history.
Limitations
While this panel analyzes 28 genes associated with hypoparathyroidism, it may not detect all genetic variations or mutations linked to the condition. Variants of unknown significance may be identified, requiring further investigation. Negative results do not rule out the presence of untested genetic contributions. Test accuracy may be impacted by the quality of the specimen submitted.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided