Disorders

ATP6V0A2-Related Cutis Laxa

Synonym(s): ARCL2A, Autosomal Recessive Cutis Laxa Type 2A, Cutis Laxa, Autosomal Recessive, Type IIA

Gene	Locus	Protein
ATP6V0A2	12q24.31	V-type proton ATPase 116 kDa subunit a isoform 2

Laboratory	Test Method	Prenatal	Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• 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.