Disorders


 

Hereditary Sensory and Autonomic Neuropathy Type V


Synonym(s): Congenital Insensitivity to Pain, HSAN V, HSAN5

 

OMIM

GeneLocusProtein
NGF1p13.1Beta-nerve growth factor

Laboratory Test Method Prenatal Carrier *
Academic Medical Center, Department of Genome Analysis and Laboratory for Neurogenetics - Amsterdam, Netherlands• Sequence analysis of the entire coding region
  
Addenbrooke's Hospital, Molecular Genetics Laboratory - Cambridge, Great Britain• Sequence analysis of the entire coding region
 
bio.logis Center for Human Genetics - Frankfurt, 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
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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