Genetic Test Details

FISH: Disorders of sex development (SRY/DYZ1/DXZ1)

Test Information

Titre
FISH: Disorders of sex development (SRY/DYZ1/DXZ1)
Catégorie
Chromosomal Anomalies
Sub Category
FISH: Disorders of Sex Development
Gene/Platform/Region List

Yp11.31

Test type
Cytogenetic
Samples Accepted
Blood
Indications
Diagnostics
Test Methodology
FISH
Disease/Condition

Disorder of sex development (Disorder of sex development (DSD), Variations in Sex Characteristics (VSC), congenital adrenal hyperplasia (CAH), androgen insensitivity syndrome (AIS, Testicular feminization syndrome, DHTR deficiency, Androgen receptor deficiency, Dihydrotestosterone receptor deficiency), Klinefelter syndrome (KS), Turner syndrome (45,X syndrome, Bonnevie-Ullrich syndrome, monosomy X, Ullrich-Turner syndrome), Rokitansky syndrome, Mayer-Rokitansky-Küster-Hauser (MRKH syndrome, congenital absence of the uterus and vagina (CAUV), genital renal ear syndrome (GRES), Mullerian agenesis, Mullerian aplasia, Rokitansky syndrome), 46,XX ovotesticular DSD)

Dernière Mise à Jour: 06 janvier 2026