Invitae Hereditary Hyperparathyroidism Panel
Use
The Invitae Hereditary Hyperparathyroidism Panel analyzes genes associated with predisposition to hyperparathyroidism. This genetic test helps confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, and inform family planning. It is valuable due to the genetic heterogeneity and clinical overlap of hyperparathyroidism conditions, enabling evaluation of several potential genes based on one clinical indication.
Special Instructions
The test is specifically designed for heritable germline mutations and is unsuitable for detecting somatic mutations in tumor tissue. Clients can customize the test by adding or removing genes, and a specimen collection kit is available upon request.
Limitations
The assay covers clinically important regions of each gene, including coding exons and adjacent intronic sequences. It does not cover some structural rearrangements or complex sequence architectures. The sensitivity is >99% for specific variations, but reduced for some insertions and deletions larger than 15bp or single-exon copy number events due to technical limitations. Certain variants outside specified regions are not analyzed.
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)