Disorders


 

Thiopurine S-Methyltransferase Deficiency


 

OMIM

GeneLocusProtein
TPMT6p22.3Thiopurine S-methyltransferase

Laboratory Test Method Prenatal Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of select exons
  
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Targeted mutation analysis
 
Praxis fuer Humangenetik Wien - Vienna, Austria• 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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