Disorders

EFEMP2-Related Cutis Laxa

Synonym(s): ARCL1B, Autosomal Recessive Cutis Laxa Type 1B

Gene	Locus	Protein
EFEMP2	11q13	EGF-containing fibulin-like extracellular matrix protein 2

Laboratory	Test Method	Prenatal	Carrier *
Connective Tissue Gene Tests - Allentown, PA, 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 Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands	• Sequence analysis of the entire coding region
University Hospital Ghent, Connective Tissue Laboratory - Ghent, Belgium	• 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.