Disorders


 

Rhizomelic Chondrodysplasia Punctata Type 2


Synonym(s): DHAPAT Deficiency, RCDP 2

 

OMIM

GeneLocusProtein
GNPAT1q42Dihydroxyacetone phosphate acyltransferase

Laboratory Test Method Prenatal Carrier *
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
Kennedy Krieger Institute, Genetics Laboratory, Peroxisomal Disorders Section - Baltimore, MD, USA• Analyte
• Enzyme assay
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication analysis
 
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain• Sequence analysis of the entire coding region
 
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Analyte
• Enzyme assay
 
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
• Enzyme assay
 
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• 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.

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