Invitae Hypoparathyroidism Panel
Use
The Invitae Hypoparathyroidism Panel analyzes genes associated with isolated or syndromic hypoparathyroidism. This comprehensive panel allows for an efficient evaluation of many potentially relevant genes based on a single clinical indication. It is particularly useful for diagnosing hypoparathyroidism in cases that are genetically heterogeneous. This test helps in determining the genetic causes behind hypoparathyroidism and related syndromic features, which may include developmental organ defects. The panel aids in identifying genetic variants that could lead to conditions like autoimmune polyendocrinopathy, PTH deficiency, and related syndromes.
Special Instructions
Post-surgical hypoparathyroidism and conditions that cause secondary hypoparathyroidism, such as thalassemia, hemochromatosis, and Wilson disease, are not included on this panel. For detailed instructions on sample collection and handling, contact client services for further assistance. This panel can be customized by selecting or deselecting genes based on clinical context or family history.
Limitations
The test has limitations, including the inability to analyze variants outside the clinically important regions of each gene. Variants like structural rearrangements, mosaicism, phasing issues, or those embedded in complex sequences might not be detected. Some single-exon copy number events may not be captured due to sequence properties or data quality issues. A negative result does not rule out the possibility of hypoparathyroidism or related genetic disorders as not all genetic causes are known. The test does not cover sequence changes in promoter regions, non-coding exons, and other non-coding areas unless explicitly stated.
New York Approved
Methodology
NGS
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)