Disorders


 

Chanarin-Dorfman Syndrome


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

 

OMIM

GeneLocusProtein
ABHD53p21.33Abhydrolase domain-containing protein 5

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Innovagenomics S.L, Innovagenomics - Salamanca, Spain• Sequence analysis of the entire coding region
University Clinic Freiburg, Institute for Human Genetics - Freiburg, Germany• 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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