Disorders


 

Trichorhinophalangeal Syndrome Type I


Synonym(s): TRP1

 

OMIM

GeneLocusProtein
TRPS18q23.3Zinc finger transcription factor Trps1

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• FISH-metaphase
  
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
  
Connective Tissue Gene Tests - Allentown, PA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Pathology Associates Medical Laboratories, Cytogenetics Laboratory - Spokane, WA, USA• FISH-metaphase
• FISH-interphase
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Children's Hospital, Labor Molekulargenetik, Abteilung Medizinische Genetik - Basel, Switzerland• 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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