Invitae Hypogonadotropic Hypogonadism Panel
Use
The Invitae Hypogonadotropic Hypogonadism Panel is designed to analyze genes associated with isolated gonadotropin-releasing hormone deficiency (IGD), Kallmann syndrome, and syndromes with hypogonadism as a major symptom. These conditions are characterized by low concentrations of gonadotropins and hypogonadism, sometimes accompanied by anosmia, indicative of Kallmann syndrome. The panel provides a broad analysis for inherited hypogonadotropic hypogonadism, aiding in the confirmation of a diagnosis and guiding treatment and management decisions. Identification of disease-causing variants can inform recurrence-risk assessment and genetic counseling.
Special Instructions
The test analyzes 46 selected genes based on the current evidence to provide a comprehensive evaluation for hypogonadotropic hypogonadism. Given the genetic heterogeneity of these conditions, phenotype alone is often insufficient to determine the cause. As such, broad panel testing allows for efficient assessment of multiple genes under a single indication.
Limitations
The assay involves full-gene sequencing and deletion/duplication analysis using NGS technology covering clinically significant regions including coding exons and specific intronic areas. Variants beyond these regions are not analyzed. Limitations might arise from structural rearrangements or complex sequence architectures which may not be detectable. The assay achieves >99% analytical sensitivity and specificity for detecting variants such as SNVs and indels. However, analysis of single-exon copy number events could be missed in rare instances.
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)