Idiopathic Hypogonadotropic Hypogonadism (IHH) via the GNRHR Gene
Use
This test is for individuals with features suggesting normosmic hypogonadotropic hypogonadism, and for family members or reproductive partners of individuals with a known GNRHR pathogenic variant. It aids in confirming a clinical diagnosis of IHH by identifying pathogenic variants in the GNRHR gene.
Special Instructions
This test can be ordered through myPrevent online system or by faxing a completed Test Requisition Form. The test can be added to the order options, including exome-wide CNV analysis for an additional fee, and STAT testing is available with a surcharge to expedite the process.
Limitations
The test is based on NGS with CNV on either the Exome or Genome platform. It may not detect all pathogenic variants of the GNRHR gene. Negative results do not exclude a diagnosis of IHH in the absence of a pathogenic variant. Standard limitations of NGS and CNV detection apply, including challenges with detecting some types of genetic variants like large indels or certain rearrangements.
New York Approved
Methodology
NGS
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