Disorders


 

cblD


Synonym(s): Methylmalonic Acidemia And Homocystinuria, CblD Type

 

OMIM

GeneLocusProtein
MMADHC2q23Methylmalonic aciduria and homocystinuria type D protein, mitochondrial

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
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
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
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
• 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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