Institutional Price 
6 weeks
CPT Code 
Test Code 
Test Methods 
Deletion/Duplication analysis
Specimen Types Accepted 
Cultured Cells
Extracted DNA
Additional Information 
If no pathogenic sequence changes are identified in this panel, we are able to reflex to analysis of selected panels related to abnormalities of sexual development at no additional charge. Please contact one of our genetic counselors for more information.

Male hypogonadism is characterized by impaired testicular function, which can affect spermatogenesis and/or testosterone synthesis. Male hypogonadism that occur secondary to hypothalamic-pituitary dysfunction is known as hypogonadotropic hypogonadism (HH). In HH, secretion of gonadotropin releasing hormone (GnRh) is absent or inadequate. HH can be congenital or acquired. Congenital HH is divided in two main clinical phenotypes depending on the presence of an intact sense of smell: anosmic HH (Kallman syndrome) and congenital normosmic isolated hypogonadotropic hypogonadism (idiopathic HH or IHH). Approximately 60% of individuals with IHH have a defective sense of smell. Patients with Kallman syndrome (KS) may have additional phenotypic abnormalities including craniofacial defects, neurosensory deafness, digital anomalies, unilateral renal agenesis, and neurological defects, whereas normosmic IHH is usually not associated with any other malformations