Disorders


 

Nevoid Basal Cell Carcinoma Syndrome


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

 

GeneReviewOMIM

GeneLocusProtein
PTCH19q22.1-q31Protein patched homolog 1

Laboratory Test Method Prenatal Carrier *
Aarhus University Hospital, Department of Molecular Medicine - Aarhus, Denmark• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
  
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of the entire coding region
 
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of the entire coding region
 
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA• Sequence analysis of the entire coding region
• 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.

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