Disorders

DLL3-Related Spondylocostal Dysostosis, Autosomal Recessive

Synonym(s): Jarcho-Levin Syndrome, SCDO1, Spondylocostal Dysostosis, Autosomal Recessive 1

Gene	Locus	Protein
DLL3	19q13.2	Delta-like protein 3

Laboratory	Test Method	Prenatal	Carrier *
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany	• Sequence analysis of the entire coding region
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain	• Sequence analysis of the entire coding region • Linkage analysis
University of Lausanne, Division of Molecular Pediatrics - Lausanne, Switzerland	• 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.