Disorders


 

Hereditary Sensory and Autonomic Neuropathy Type IIA


Synonym(s): Hereditary Sensory Neuropathy, Type IIA, HSAN IIA, HSAN2A, HSN IIA, HSN2A

 

OMIM

GeneLocusProtein
WNK112p13.3Serine/threonine-protein kinase WNK1

Laboratory Test Method Prenatal Carrier *
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA• Sequence analysis of the entire coding region
  
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
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
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
Massachusetts General Hospital, Neurogenetics DNA Diagnostic Laboratory - Boston, MA, USA• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
 
University Hospital Jena, Institute of Human Genetics - Jena, Germany• Sequence analysis of the entire coding region
• Linkage 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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