The Hypogonadotropic Hypogonadism Panel examines genes linked to isolated gonadotropin-releasing hormone deficiency (IGD), Kallmann syndrome, and syndromes with hypogonadism as a primary symptom. These conditions lead to low levels of gonadotropins (luteinizing and follicle-stimulating hormones) and hypogonadism. Some individuals with IGD may also have a reduced sense of smell, a characteristic of Kallmann syndrome. The genes included in the panel were chosen based on current evidence to offer a comprehensive analysis for inherited hypogonadotropic hypogonadism. Because of the genetic diversity associated with these disorders, relying solely on symptoms to determine the cause can be challenging. By conducting a broad panel test, multiple potential genes can be assessed efficiently based on a single clinical indication. Genetic testing may confirm a diagnosis and aid in making treatment and management decisions. Identifying a disease-causing variant can help determine the risk of recurrence and provide guidance for genetic counseling.
Targeted Exome/ Slice Exome (Next Generation Sequencing including Copy Number Variation)
120x
All sequencing technologies have limitations. A negative result from this analysis does not rule out a possible genetic diagnosis as some variants may not be detected by this test. This test is not designed to detect low level mosaicism, structural rearrangements, indels >40bp, deep intronic variants of unknown clinical significance, or large cytogenetic CNVs. Certain inherent qualities of the human genome, for example repetitive regions/homopolymers, GC rich, pseudogenes, and rare polymorphisms, pose significant technical challenges such as sequence misalignment that may potentially impact the accuracy of the results. False negative results may also occur in the setting of allogeneic bone marrow, stem cell transplantation, active or chronic hematologic conditions, recent blood transfusions, suboptimal DNA quality or PCR trace contamination. Other potential sources of error include sample mix-ups and clerical issues.