Disorders

Proprotein Convertase-1 Deficiency

Synonym(s): Obesity and Endocrinopathy due to Impaired Processing of Prohormones

Gene	Locus	Protein
PCSK1	5q15-q21	Neuroendocrine convertase 1

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• 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.