Disorders

Mast Cell Disease

Gene	Locus	Protein
KIT	4q11-q12	Mast/stem cell growth factor receptor

Laboratory	Test Method	Prenatal	Carrier *
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• 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.