Disorders

Purine Nucleoside Phosphorylase Deficiency

Synonym(s): PNP Deficiency

Gene	Locus	Protein
PNP	14q11.2	Purine nucleoside phosphorylase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Analyte • Enzyme assay
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Duke University Medical Center, Purine Metabolic and Immunodeficiency Lab - Durham, NC, USA	• 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.