Disorders

Lethal Restrictive Dermopathy, LMNA-Related

Synonym(s): Hyperkeratosis-Contracture Syndrome, LMNA-Related, Lethal Tight Skin Contracture Syndrome, LMNA-Related

Gene	Locus	Protein
LMNA	1q22	Prelamin-A/C

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
CeGaT GmbH - Tuebingen, Germany
CGC Genetics - Porto, Portugal
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Health in Code S.L. - A Coruña, Spain
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
University of Greifswald, Institute of Human Genetics - Greifswald, Germany
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA

^* 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.