Congenital adrenal hypoplasia
Analysis ID 110
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Congenital adrenal hypoplasia
OMIM #300200
Clinical information Congenital adrenal hypoplasia (CAH) is a rare genetic disorder, which may be either autosomal or X-linked. The latter form is caused by mutations in the DAX1 gene. The disease affects mostly males. Within CAH, secretion of male hormones is reduced, thereby delayed puberty and infertility may be the features. Onset of the disease is variable, even among the relatives.
Type of analysis molecular
Type of biological material Krew obwodowa pobrana na EDTA; Próbka DNA
Analyzed genes NR0B1 (DAX1)
Analysis description Sequencing analysis of the NR0B1 (DAX1) gene
Analysis indication Congenital adrenal hypolasia
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders