Disorders


 

cblC


Synonym(s): Methylmalonic Acidemia and Homocystinuria, cblC type, Methylmalonic Aciduria and Homocystinuria, cblC type

 

OMIM

GeneLocusProtein
MMACHC1p34.1Methylmalonic aciduria and homocystinuria type C protein

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Analyte
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
 
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Hôpital Robert Debré, Biochimie Hormonologie - Paris, France• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Sequence analysis of the entire coding region
• Analyte
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Analyte
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands• Sequence analysis of the entire coding region
• 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.

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