Disorders


 

Chorea-acanthocytosis


Synonym(s): ChAc, Choreoacanthocytosis

 

GeneReviewOMIM

GeneLocusProtein
VPS13A9q21Vacuolar protein sorting-associated protein 13A

Laboratory Test Method Prenatal Carrier *
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
North York General Hospital, Molecular Genetics Laboratory - Toronto, Canada• Targeted mutation analysis

* 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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