Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired production, secretion, or action of gonadotropin-releasing hormone (GnRH). Hypogonadotropic hypogonadism presents clinically as incomplete or absent puberty and infertility in males and females. CHH may be isolated or be associated with other developmental anomalies such as cleft lip or palate, dental agenesis, ear anomalies, congenital hearing impairment, renal agenesis, bimanual synkinesis, or skeletal anomalies. When CHH is accompanied by a defective sense of smell (anosmia or hyposmia), it is termed Kallmann syndrome (KS) and results from incomplete embryonic migration of GnRH-synthesizing neurons.  

CHH/KS is genetically heterogeneous, and causative genes include X-linked, autosomal dominant, and recessive inheritance. The Hypogonadotropic Hypogonadism/Kallman Syndrome Panel includes sequence and deletion/duplication analysis of over 40 genes associated with CCH/KS.  

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
2110
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene on the Hypogonadotropic Hypogonadism/KS Panel can also be ordered individually. Please contact us directly for cost and CPT code 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.