Disorders

Nevoid Basal Cell Carcinoma Syndrome

Synonym(s): Basal Cell Nevus Syndrome (BCNS), Gorlin Syndrome, NBCCS, Nevoid Basal Cell Cancer Syndrome

Gene	Locus	Protein
PTCH1	9q22.1-q31	Protein patched homolog 1

Laboratory	Test Method	Prenatal	Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
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
GGA - Galil Genetic Analysis - Kazerin, Israel
Innovagenomics S.L, Innovagenomics - Salamanca, Spain
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA	• Linkage analysis

^* 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.