Disorders


 

Achalasia-Addisonianism-Alacrima Syndrome


Synonym(s): AAA, Allgrove Syndrome, Triple A Syndrome, Triple-A Syndrome

 

OMIM

GeneLocusProtein
AAAS12q13Aladin

Laboratory Test Method Prenatal Carrier *
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Novogenia - Mondsee, Austria• Sequence analysis of the entire coding region
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• 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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