Disorders


 

Adrenal Insufficiency, Congenital, with 46XY Sex Reversal, Partial or Complete


 

OMIM

GeneLocusProtein
CYP11A115q23-q24Cholesterol side-chain cleavage enzyme, mitochondrial

Laboratory Test Method Prenatal Carrier *
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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