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Developmental anomalies of the genital organs
Call to order - 01707 707 560.
Online order will be available soon.
Description
Congenital malformations of the genitals (ambiguous genitals) represent a complex situation, affecting one in 5,000 births. The genitals are not formed correctly: the male may have hypospadias (= small penis) in milder cases, up to complete demasculinization, while in the female the labioscrotal folds fuse and hypertrophy of the clitoris occurs.Ambiguous genitals relate to phenotypic sex, that is, the conformation of the external genitalia. Chromosomal sex is determined by amniocentesis or CVS.
Additional information
Samples | EDTA |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 12 |
Genes / Chromosomes / SNPs | AR, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP21A2, DHCR7, HSD17B3, HSD3B2, POR, SRY, STAR |