X-Linked Hypoparathyroidism via the Interstitial Deletion-Insertion Involving Chromosomes 2p25.3 and Xq27.1, Near SOX3
Use
This test is intended for individuals who have either negative results from prior genetic testing or have identified a single variant associated with autosomal recessive disease in the relevant gene, where clinical suspicion remains high for the condition caused by that gene. It is also applicable for family members of patients who have tested positive for specific deletions, duplications, or inversions associated with X-linked hypoparathyroidism. This genetic analysis helps confirm a diagnosis and guide proper clinical management for affected individuals and families at risk.
Special Instructions
Not provided.
Limitations
This test is limited by its methodology of Targeted PCR, which only detects known and targeted regions associated with the specified genetic disorder. As a result, it may not detect other genetic causes or factors outside of the targeted regions. Unexpected variants and novel mutations not previously associated with X-linked hypoparathyroidism will likely not be identified. Thus, negative test results do not rule out the possibility of other genetic contributions to the phenotypic presentation.
Methodology
PCR-based (PCR)
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