Disorders


 

Hyperprolinemia, Type II


 

OMIM

GeneLocusProtein
ALDH4A11p36Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Analyte
  
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA• Analyte
  
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Analyte
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA• Analyte
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
  
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
  
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic• Sequence analysis of the entire coding region
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA• Analyte

* 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.

Loading...