Disorders

Mannose-Binding Protein Deficiency

Synonym(s): Mannose-Binding Lectin Deficiency, MBL2 Deficiency, MBP Deficiency

Gene	Locus	Protein
MBL2	10q11.2	Mannose-binding protein C

Laboratory	Test Method	Prenatal	Carrier *
All Children's Hospital, Clinical Molecular Genetics Laboratory - St. Petersburg, FL, USA	• Sequence analysis of select exons
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Centre for Cardiovascular Surgery and Transplantation, Molecular Genetics Laboratory - Brno, Czech Republic	• Targeted mutation analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Praxis fuer Humangenetik Wien - Vienna, Austria	• 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.