Disorders


 

FKTN-Related Muscle Diseases


 

OMIM

GeneLocusProtein
FKTN9q31-q33Fukutin

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Linkage analysis
• Deletion/duplication analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of the entire coding region
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Medical Neurogenetics - Atlanta, GA, USA• Sequence analysis of the entire coding region
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA• Targeted mutation analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
 
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
• Linkage analysis
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
University of Iowa Hospitals and Clinics, Department of Pathology - Iowa City, IA, USA• Sequence analysis of the entire coding region
• Targeted mutation 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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