Disorders


 

Pallister-Hall Syndrome


 

GeneReviewOMIM

GeneLocusProtein
GLI37p13Zinc finger protein GLI3

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
• Mutation scanning of select exons
 
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of the entire coding region
• Sequence analysis of select exons
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Linkage analysis
• 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.

Loading...