Disorders

Farber Lipogranulomatosis

Synonym(s): Acid Ceramidase Deficiency, Farber Disease

Gene	Locus	Protein
ASAH1	8p22	Acid ceramidase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
GENETAQ, Molecular Genetics Centre - Malaga, Spain
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay

^* 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.