LHCGR-related Disorders via the LHCGR Gene
Use
This test is intended for individuals who have relevant clinical features and a suspected diagnosis of familial male precocious puberty or Leydig cell hypoplasia. It is also applicable to family members of individuals with known pathogenic variants in the LHCGR gene and reproductive partners of individuals carrying these variants. The LHCGR gene is crucial for male sexual development and reproduction. Variants in this gene can impact hormonal pathways, leading to disorders of sexual development.
Special Instructions
The test is offered on both exome and genome platforms, with the exome platform accepting blood, DNA, buccal, saliva, and tissue specimens, while the genome platform accepts blood and DNA specimens only. STAT testing options are available, which expedite the reporting time to within 16 days. Family testing options are also available, allowing for targeted testing in familial contexts.
Limitations
The test methods include NGS with CNV analysis, which might not detect all pathogenic variants in the LHCGR gene. Variants located in regions with high homology to other sequences, low complexity, or intrinsic variability may not be accurately detected. The test has not been cleared or approved by the US Food and Drug Administration; therefore, the results must be interpreted in the context of clinical findings and family history.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided