Clinical and research tests for C0033806 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
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
Pseudohypoparathyroidism Ia, 103580, Autosomal dominant; PHP1A (Pseudohypoparathyroidism type 1A) (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
Pseudohypoparathyroidism Ia, 103580, Autosomal dominant; PHP1A (Pseudohypoparathyroidism type 1A) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Invitae Hypophosphatemia Panel Invitae United States	23	17	D Deletion/duplication analysis 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
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
Hypoparathyroidism Panel PreventionGenetics, part of Exact Sciences United States	15	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States	32	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Monogenic Obesity Panel Genetic Services Laboratory University of Chicago United States	17	50	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GNAS Methylation-Specific MLPA Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	4	1	M Methylation analysis
Female Infertility Asper Biogene Asper Biogene LLC Estonia	85	64	C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Osteogenesis Imperfecta and Decreased Bone Density NGS Panel Fulgent Genetics United States	111	32	D Deletion/duplication analysis C Sequence analysis of the entire coding region
McCune-Albright Syndrome (GNAS Single Gene Test) Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypothyroidism and Resistance to Thyroid Hormone NGS Panel Fulgent Genetics United States	41	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progressive Osseous Heteroplasia (GNAS Single Gene Test) Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Hypothyroidism , Panel Massive Sequencing 20 Genes Reference Laboratory Genetics Spain	24	19	C Sequence analysis of the entire coding region
Hypothyroidism and Thyroid Hormone Resistance Asper Biogene Asper Biogene LLC Estonia	29	22	C Sequence analysis of the entire coding region

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