Disorders

MFSD8-Related Neuronal Ceroid-Lipofuscinosis

Synonym(s): CLN7-Related Neuronal Ceroid-Lipofuscinosis

Gene	Locus	Protein
MFSD8	4q28.2

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA

^* 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.