Disorders

Proximal Symphalangism

Synonym(s): Cushing Symphalangism, Hereditary Absence of the Proximal Interphalangeal Joints

Gene	Locus	Protein
NOG	17q22	Noggin

Laboratory	Test Method	Prenatal	Carrier *
Charit Unversitaetsmedizin Berlin, Institute of Medical Genetics and Human Genetics - Berlin, Germany	• Sequence analysis of the entire coding region
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• 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.