Disorders

Ichthyosis Bullosa of Siemens

Gene	Locus	Protein
KRT2	12q13.13	Keratin, type II cytoskeletal 2 epidermal

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of select exons
GENETAQ, Molecular Genetics Centre - Malaga, Spain
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany

^* 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.