Disorders (or differences) of Sex Development gene panel

Disorders (or Differences) of Sex Development (DSD) Gene Panel

Test Name: Disorders (or Differences) of Sex Development Gene Panel

Test Overview:
A comprehensive genetic test that analyzes multiple genes associated with disorders/differences of sex development (DSD). DSD refers to congenital conditions in which chromosomal, gonadal, or anatomical sex development differs from typical patterns. The panel can help identify genetic causes and support accurate diagnosis, clinical management, and genetic counselling.

Why is the test done?

• Evaluation of atypical genital development or ambiguous genitalia
• Differences in sexual development identified at birth or later
• Suspected disorders of sex determination or differentiation
• Delayed or atypical puberty
• Primary amenorrhea or unexplained reproductive abnormalities
• Suspected disorders of steroidogenesis or androgen action
• Family history of a genetic DSD
• Cases where routine hormonal and chromosomal investigations are inconclusive

What does it detect?
Depending on the panel, analysis may include genes involved in:

• Sex determination and gonadal development
• Androgen synthesis and metabolism
• Androgen receptor signalling
• Steroid hormone biosynthesis
• Müllerian and Wolffian duct development
• Gonadal differentiation and function

Sample: Peripheral blood / EDTA blood

Method: Next-Generation Sequencing (NGS), with relevant variant confirmation and copy-number analysis where applicable.

Report: Identified pathogenic/likely pathogenic variants are interpreted according to established clinical guidelines. Variants of uncertain significance may also be reported where appropriate.

Clinical Significance:
Identifying the underlying genetic cause can help establish or refine the diagnosis, guide further evaluation and management, assess recurrence risk, and support appropriate genetic counselling.

Important Note:
A negative result does not completely exclude a genetic cause. Interpretation should be correlated with clinical findings, hormone studies, karyotyping/chromosomal analysis, imaging, and other relevant investigations.