Disorders of sex development (DSDs) occur when sex development does not follow the course of typical male or female patterning. Types of DSDs include congenital development of ambiguous genitalia, disjunction between the internal and external sex anatomy, incomplete development of the sex anatomy, and abnormalities of the development of gonads (such as ovotestes or streak ovaries). DSDs can be caused by a wide range of genetic abnormalities. Determining the etiology of a patient’s DSD can assist in deciding gender assignment, provide recurrence risk information for future pregnancies, and can identify potential health problems such as adrenal crisis or gonadoblastoma.

Our Abnormal/Ambiguous Genitalia Panel includes genes associated with both syndromic and non-syndromic DSDs. This comprehensive panel evaluates a broad range of genetic causes of ambiguous or abnormal genitalia, including conditions in which abnormal genitalia are the primary physical finding as well as syndromic conditions that involve abnormal genitalia in addition to other congenital anomalies. This panel includes sequence and deletion/duplication analysis of the listed genes. 

Institutional Price 
$3,000.00
TAT 
6 weeks
CPT Code 
81443
Test Code 
2109
Test Methods 
Sequencing
Deletion/Duplication analysis
Specimen Types Accepted 
Blood
Saliva
Buccal
Cultured Cells
Extracted DNA
Additional Information 
Any gene in the Abnormal/Ambiguous Genitalia Panel can also be ordered individually. Please contact us directly for cost and CPT code information.