Disorders


 

Familial Thrombotic Thrombocytopenia Purpura


 

OMIM

GeneLocusProtein
ADAMTS139q34A disintegrin and metalloproteinase with thrombospondin motifs 13

Laboratory Test Method Prenatal Carrier *
BloodCenter of Wisconsin, Hemostasis Reference Laboratory - Milwaukee, WI, USA• Sequence analysis of the entire coding region
• Protein analysis
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
• Linkage analysis
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Secugen SL - Madrid, Spain• Sequence analysis of the entire coding region

* 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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