Disorders

Metachromatic Leukodystrophy due to Saposin B Deficiency

Synonym(s): Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency, Saposin B Deficiency

Gene	Locus	Protein
PSAP	10q21-q22	Proactivator polypeptide

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Analyte
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay • Immunohistochemistry
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Sequence analysis of select exons • Analyte

^* 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.