Disorders

Rhizomelic Chondrodysplasia Punctata Type 1

Synonym(s): RCDP 1

Gene	Locus	Protein
PEX7	6q21-q22.2	Peroxisomal targeting signal 2 receptor

Laboratory	Test Method	Prenatal	Carrier *
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
diagenos - Osnabrueck, Germany
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA	• Sequence analysis of select exons
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA	• Analyte • Enzyme assay
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany
Medgene, MedGene - Bratislava, Slovakia
Novogenia - Mondsee, Austria
Praxis fuer Humangenetik Wien - Vienna, Austria
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Targeted mutation analysis • Analyte • Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Analyte • Enzyme assay

^* 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.