Disorders

Netherton Syndrome

Synonym(s): Ichthyosis Linearis Circumflexa, NETH, Netherton Disease, NS

Gene	Locus	Protein
SPINK5	5q31-q32	Serine protease inhibitor Kazal-type 5

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Mutation scanning of select exons
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland
Seattle Children's Research Institute, Immunology Diagnostics Laboratory - Seattle, WA, USA	• Immunohistochemistry • Protein expression

^* 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.