Disorders


 

Spinal Muscular Atrophy, X-Linked Infantile


Synonym(s): XL-SMA

 

GeneReviewOMIM

GeneLocusProtein
UBA1Xp11.23Ubiquitin-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• Sequence analysis of the entire coding region
• Linkage analysis
GSTS Pathology, DNA Laboratory - London, Great Britain• Sequence analysis of the entire coding region
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• 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.

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