Clinical and research tests for C0010481 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
ACTH-independent macronodular adrenal hyperplasia, 219080, Isolated cases(Cushing syndrome due to macronodular adrenal hyperplasia) (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
ACTH-independent macronodular adrenal hyperplasia, 219080, Isolated cases(Cushing syndrome due to macronodular adrenal hyperplasia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Monogenic Obesity panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	38	40	C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	25	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 Adrenal Hyperplasia NGS Panel Fulgent Genetics United States	32	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ARMC5 Single Gene Fulgent Genetics United States	19	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing GNAS CeGaT GmbH Germany	7	1	C Sequence analysis of the entire coding region
GNAS Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Skeletal Dysplasias NGS Panel Fulgent Genetics United States	557	182	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5130	4674	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Nuclear-Mito NGS Panel Fulgent Genetics United States	1103	676	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability NGS Panel Fulgent Genetics United States	1058	554	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes-Obesity NGS Panel Fulgent Genetics United States	73	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACTH-independent macronodular adrenal hyperplasia Praxis fuer Humangenetik Wien Austria	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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