Disorders


 

Scapuloperoneal Spinal Muscular Atrophy


Synonym(s): Neurogenic Scapuloperoneal Amyotrophy, New England Type, SPSMA

 

OMIM

GeneLocusProtein
TRPV412q24.1Transient receptor potential cation channel subfamily V member 4

Laboratory Test Method Prenatal Carrier *
Alfred I. duPont Hospital for Children, Molecular Diagnostics Lab - Wilmington, DE, USA• Sequence analysis of select exons
  
CeGaT GmbH - Tuebingen, Germany  
CGC Genetics - Porto, Portugal  
Connective Tissue Gene Tests - Allentown, PA, USA  
InVitae Corporation - San Francisco, CA, USA  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  

* 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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