Disorders


 

Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum


Synonym(s): ACCPN, Agenesis of Corpus Callosum with Peripheral Neuropathy, Agenesis of Corpus Callosum with Polyneuropathy, Andermann Syndrome, HMSN/ACC

 

GeneReviewOMIM

GeneLocusProtein
SLC12A615q13Solute carrier family 12 member 6

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
  
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany• Sequence analysis of the entire coding region
• Linkage analysis
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
Hopital Saint-Francois d'Assise du CHUQ, Laboratoire de Diagnostic Moleculaire - Quebec City, Canada• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain• Sequence analysis of select exons
• Targeted mutation analysis
MGZ München, Medizinisch Genetisches Zentrum Mnchen - München, Germany• Sequence analysis of the entire coding region
 
Opmedic Group Inc., Genetic Laboratory - Mont-Royal, Canada• Targeted mutation analysis
 
Sistemas Genomicos, Medical Genetics Unit - Paterna, Spain• Sequence analysis of select exons
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA• Sequence analysis of the entire coding region
• Deletion/duplication 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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