FISH: Disorders of sex development
| Test Information | |
|---|---|
| Test Name | FISH: Disorders of sex development |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Chromosomal Anomalies |
| Subcategory | Disorders of Sex Development |
| Gene/Platform/Region List | Yp11.31 |
| Test type | Cytogenetic |
| Samples Accepted | Blood |
| Indications Diagnosis | Diagnosis |
| Test Methodology | FISH |
| Diseases/Conditions | 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) |
| Notes | Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. |