Disorders


 

Lethal Restrictive Dermopathy, LMNA-Related


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

 

OMIM

GeneLocusProtein
LMNA1q22 

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA• Sequence analysis of the entire coding region
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
CGC Genetics - Porto, Portugal• Sequence analysis of the entire coding region
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Health in Code S.L. - A Coruña, Spain• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands• 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
University of Greifswald, Institute of Human Genetics - Greifswald, Germany• Sequence analysis of the entire coding region
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA• 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.

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