Disorders


 

Ehlers-Danlos Syndrome Type VIIA


Synonym(s): EDS VIIA

 

OMIM

GeneLocusProtein
COL1A117q21.33Collagen alpha-1(I) chain

Laboratory Test Method Prenatal Carrier *
bio.logis Center for Human Genetics - Frankfurt, Germany• Sequence analysis of select exons
 
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
 
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany• Sequence analysis of select exons
 
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of select exons
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of select exons
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of select exons
 
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany• Sequence analysis of select exons
• Deletion/duplication analysis
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of select exons
• Deletion/duplication analysis
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of select exons
• Deletion/duplication analysis
 
University of Washington Medical Center, Collagen Diagnostic Laboratory - Seattle, WA, USA• Sequence analysis of select exons
 

* 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.

Loading...