Disorders


 

Pseudohypoparathyroidism Type IA


Synonym(s): Albright Hereditary Osteodystrophy with Multiple Hormone Resistance, PHP IA, PHP1A

 

OMIM

GeneLocusProtein
GNAS20q13.2-q13.3Guanine nucleotide-binding protein G(s) subunit alpha isoforms short

Laboratory Test Method Prenatal Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands• Sequence analysis of the entire coding region
 
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA• Sequence analysis of the entire coding region
 
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany• Sequence analysis of the entire coding region
 
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA• Sequence analysis of the entire coding region
• Methylation analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand• 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.

Loading...