Disorders

TGM1-Related Autosomal Recessive Congenital Ichthyosis

Gene	Locus	Protein
TGM1	14q11.2	Protein-glutamine gamma-glutamyltransferase K

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Innovagenomics S.L, Innovagenomics - Salamanca, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* 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.