Disorders


 

Pseudohypoparathyroidism Type IB


Synonym(s): PHP 1B, PHP1B

 

OMIM

GeneLocusProtein
STX1620q13.32Guanine nucleotide-binding protein G(s) subunit alpha isoforms short

Laboratory Test Method Prenatal Carrier *
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• Methylation analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• 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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