Disorders


 

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease


 

OMIM

GeneLocusProtein
GATA310p15Trans-acting T-cell-specific transcription factor GATA-3

Laboratory Test Method Prenatal Carrier *
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany• Sequence analysis of the entire coding region
  
Institut de Pathologie et de Genetique, Centre de Genetique Humaine - Gosselies, Belgium• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Oxford Medical Genetics Laboratories, Oxford Genetics Laboratories - Oxford, Great Britain• Sequence analysis of the entire coding region
 
PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA• FISH-metaphase
 
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, 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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