Disorders

cblE

Synonym(s): Homocystinuria, type cblE, Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, cblE Complementation Type, Methylcobalamin Deficiency, cblE Type

OMIM

Gene	Locus	Protein
MTRR	5p15.31	Methionine synthase reductase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Deletion/duplication analysis
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.