Disorders

Isolated X-Linked Adrenal Hypoplasia Congenita

Gene	Locus	Protein
NR0B1	Xp21.3	Nuclear receptor subfamily 0 group B member 1

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
bio.logis Center for Human Genetics - Frankfurt, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA

^* 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.