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 , Fertility\Reproductive
- Sub Category
- Disorders of Sex Development
- Gene/Platform/Region List
- SRY, Xp11.1-q11.1, Yp11.31, Yq12
- Test type
- Cytogenetic
- Samples Accepted
- Blood , CVS , Amniocyte
- Indications
- Diagnosis , Prenatal
- Test Methodology
- FISH
- Methodology Notes
- Metaphase FISH, Interphase 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: 18 juin 2025