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GTD Indications Diagnosis Prenatal GTD Samples Accepted Blood Amniocyte CVS GTD Test Methodology FISH GTD Methodology Notes Metaphase FISH, Interphase FISH GTD Notes Before requesting this test, please contact the lab for information regarding eligibility and availability of testing for your patient. Generic Test name (cms title) Disorders of Sex Development GTD Test type Cytogenetic GTD Location Children's Hospital of Eastern Ontario GTD Gene/Platform/Region List SRY, Xp11.1-q11.1, Yp11.31, Yq12 GTD Category Chromosomal Anomalies Fertility/Reproductive GTD 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)