Disorders


 

Trichorhinophalangeal Syndrome Type II


Synonym(s): Chromosome 8q24.1 Deletion Syndrome, Langer-Giedion Syndrome, LGS, TRPS2

 

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• Deletion/duplication analysis
 
CGC Genetics - Porto, Portugal• Deletion/duplication analysis
 
Medgene, MedGene - Bratislava, Slovakia• 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
 

* 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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