Disorders


 

Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency


 

OMIM

GeneLocusProtein
AHCY20q11.22Adenosylhomocysteinase

Laboratory Test Method Prenatal Carrier *
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic• 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

* 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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