Disorders

Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders

Gene	Locus	Protein
RMRP	9p21-p12	Ribonuclease P protein subunit p25

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Connective Tissue Gene Tests - Allentown, PA, USA
GeneDx - Gaithersburg, MD, USA
HUSLAB, Laboratory of Genetics - Helsinki, Finland
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland

^* 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.