Disorders

Familial Cerebral Cavernous Malformation 1

Synonym(s): CCM 1, CCM1

Gene	Locus	Protein
KRIT1	7q21.2	Krev interaction trapped protein 1

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Cliniques universitaires Saint Luc, Center for Human Genetics - Brussels, Belgium	• Mutation scanning of the entire coding region
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA	• FISH-metaphase
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Targeted mutation analysis • Linkage analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain	• Targeted mutation analysis
University of Greifswald, Institute of Human Genetics - Greifswald, 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.