Disorders


 

Knobloch Syndrome Type I


Synonym(s): Retinal Detachment and Occipital Encephalocele

 

OMIM

GeneLocusProtein
COL18A121q22.3Collagen alpha-1(XVIII) chain

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Hospitals of Geneva - Genetic Medicine, Genetic Oncology - DiagMol - Geneva, Switzerland• Sequence analysis of select exons
• 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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