Disorders


 

Aldolase A Deficiency


Synonym(s): Glycogen Storage Disease XII, GSD12

 

OMIM

GeneLocusProtein
ALDOA16p11.2Fructose-bisphosphate aldolase A

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
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region

* 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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