Clinical and research tests for 612463 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pseudopseudohypoparathyroidism, 612463, Autosomal dominant (Pseudopseudohypoparathyroidism) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Pseudopseudohypoparathyroidism, 612463, Autosomal dominant (Pseudopseudohypoparathyroidism) (GNAS gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Albright Hereditary Osteodystrophy (GNAS) Center for Genetics at Saint Francis Saint Francis Hospital United States	4	1	C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNAS - MLPA Centogene AG - the Rare Disease Company Germany	8	1	D Deletion/duplication analysis
GNAS - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hypoparathyroidism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	41	18	D Deletion/duplication analysis
Invitae Cholestasis Panel Labcorp Genetics (formerly Invitae) LabCorp United States	210	134	D Deletion/duplication analysis
Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	404	241	D Deletion/duplication analysis
Invitae Monogenic Obesity Panel Labcorp Genetics (formerly Invitae) LabCorp United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Overgrowth Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	96	53	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cholestasis Panel PreventionGenetics, part of Exact Sciences United States	130	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	50	C Sequence analysis of the entire coding region
Comprehensive Monogenic Obesity Panel PreventionGenetics, part of Exact Sciences United States	43	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Genetic Test of single known genetic variant National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	7	10	E Sequence analysis of select exons
Pseudohypoparathyroidism(PHP) panel National Taiwan University Hospital A1 Center National Taiwan University Hospital Taiwan	3	1	C Sequence analysis of the entire coding region
GNAS-Related Disorders via the GNAS Gene PreventionGenetics, part of Exact Sciences United States	5	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Osteogenesis Imperfecta and Bone Fragility Panel Labcorp Genetics (formerly Invitae) LabCorp United States	120	65	D Deletion/duplication analysis

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.