Disorders


 

Amelogenesis Imperfecta, Hypomaturation Type, IIA1


Synonym(s): AI2A1, Amelogenesis Imperfecta, Pigmented Hypomaturation Type, 1

 

OMIM

GeneLocusProtein
KLK419q13.3-q13.4Kallikrein-4

Laboratory Test Method Prenatal Carrier *
ATG-GenMed - Berlin, Germany• Sequence analysis of the entire coding region
  
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
  
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Deletion/duplication 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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