Disorders

ALDH18A1-Related Cutis Laxa

Synonym(s): ARCL3A, Cutis Laxa, Corneal Clouding, and Mental Retardation, De Barsy Syndrome A, Progeroid Syndrome of De Barsy

OMIM

Gene	Locus	Protein
ALDH18A1	10q24.3-q24.6	Delta-1-pyrroline-5-carboxylate synthase

Laboratory	Test Method	Prenatal	Carrier *
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication 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.