Disorders


 

KANSL1-Related Intellectual Disability Syndrome


Synonym(s): Koolen-de Vries Syndrome, Koolen-deVries Syndrome

 

GeneReviewOMIM

GeneLocusProtein
KANSL117q21.31KAT8 regulatory NSL complex subunit 1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Deletion/duplication analysis
  
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands• Sequence analysis of the entire coding region
 

* 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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