Disorders


 

Mast Syndrome


Synonym(s): HSP21, Spastic Paraplegia 21, SPG 21, SPG21

 

OMIM

GeneLocusProtein
SPG2115q21-q22Maspardin

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of the entire coding region
 
InVitae Corporation - San Francisco, CA, USA• Sequence analysis of the entire coding region
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA• Targeted mutation analysis
 

* 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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