Disorders

Chanarin-Dorfman Syndrome

Synonym(s): Neutral Lipid Storage Disease with Ichthyosis, Triglyceride Storage Disease with Impaired Long-Chain Fatty Acid Oxidation

OMIM

Gene	Locus	Protein
ABHD5	3p21.33	Abhydrolase domain-containing protein 5

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
Innovagenomics S.L, Innovagenomics - Salamanca, 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.