Disorders


 

Ataxia-Telangiectasia


Synonym(s): A-T, Ataxia Telangiectasia, Louis-Bar Syndrome

 

GeneReviewOMIM

GeneLocusProtein
ATM11q22-q23Serine-protein kinase ATM

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA  
bio.logis Center for Human Genetics - Frankfurt, Germany  
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany  
City of Hope National Medical Center, Clinical Molecular Diagnostic Laboratory - Duarte, CA, USA  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA  
Mayo Clinic - Minnesota, Cytogenetics Laboratory - Rochester, MN, USA• Chromosome breakage studies
  
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel• Targeted mutation analysis
  
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Linkage analysis
• Chromosome breakage studies
  
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain  
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain• Chromosome breakage studies
  
UCLA Medical Center, DNA Repair Clinical Testing Laboratory - Los Angeles, CA, USA• Mutation scanning of the entire coding region
• Linkage analysis
• Enzyme assay
• Protein analysis
• Protein expression
  

* 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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