Disorders

Spinal Muscular Atrophy, X-Linked Infantile

Synonym(s): XL-SMA

Gene	Locus	Protein
UBA1	Xp11.23	Ubiquitin-like modifier-activating enzyme 1

Laboratory	Test Method	Prenatal	Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Sequence analysis of select exons
Cologne University, Institute of Human Genetics - Cologne, Germany	• Linkage analysis
GSTS Pathology, DNA Laboratory - London, Great Britain
MGZ München, Medizinisch Genetisches Zentrum München - München, Germany

^* 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.