Disorders

Pseudohypoparathyroidism Type IA

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

Gene	Locus	Protein
GNAS	20q13.2-q13.3	Guanine 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
Amplexa Genetics A/S, Amplexa Genetics - Odense, Denmark
Center for Genetics at Saint Francis, Genetics Laboratory - Tulsa, OK, USA
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Johns Hopkins Hospital, DNA Diagnostic Laboratory - Baltimore, MD, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand

^* 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.