Disorders

Amelogenesis Imperfecta, Type 1E

Synonym(s): AIH1, Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1, Enamel Hypoplasia, X-Linked

Gene	Locus	Protein
AMELX	Xp22.31-p22.1	Amelogenin, X isoform

Laboratory	Test Method	Prenatal	Carrier *
ATG-GenMed - Berlin, Germany	• 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.