GONADAL DYSGENESIA 46,XX: CLINICAL EXOME PANEL (Sec. & CNVs) – 9 genes
LabGenetics
Delivery time
3-4 weeks
Sample
Blood
The 46,XX Gonadal Dysgenesis Panel is designed for the genetic diagnosis of gonadal development disorders in individuals with a female karyotype, characterized by insufficient or absent ovarian development, primary or secondary amenorrhea, infertility, and elevated gonadotropin levels. These alterations may result from mutations in genes involved in ovarian differentiation and function, meiosis regulation, and follicular pool maintenance. The panel includes key genes such as BMP15, FSHR, NR5A1, ESR2, MCM9, NUP107, PSMC3IP, and SOHLH1, whose dysfunction can lead to pure gonadal dysgenesis, premature ovarian insufficiency, or hypergonadotropic hypogonadism. Identifying pathogenic variants allows for confirmation of the genetic etiology, guidance in reproductive prognosis, definition of fertility preservation options, and provision of family genetic counseling. Key genes analyzed: BMP15, ESR2, FSHR, NR5A1, MCM9, NUP107, PSMC3IP, SOHLH1, and others. For a complete list of analyzed genes, please contact Genotica.
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