Clinical and research tests for C1857854 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
POMC - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cholestasis Panel Invitae United States	210	134	D Deletion/duplication analysis
Invitae Hypoglycemia Panel Invitae United States	173	119	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Monogenic Obesity Panel Invitae United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (Obesity due to pro-opiomelanocortin deficiency) (POMC 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
Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (Obesity due to pro-opiomelanocortin deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Non-Syndromic Monogenic Obesity via the POMC Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Non-Syndromic Monogenic Obesity Panel PreventionGenetics, part of Exact Sciences United States	6	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Non-syndromic Monogenic Obesity Panel Genetic Services Laboratory University of Chicago United States	8	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
POMC Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	2	1	T Targeted variant analysis
POMC Sequence Analysis Baylor Genetics United States	2	1	C Sequence analysis of the entire coding region
Monogenic obesity panel. 36-gene NGS panel. Genologica Medica Spain	55	36	C Sequence analysis of the entire coding region
Glucocorticoid deficiency panel. 6-gene NGS panel. Genologica Medica Spain	7	6	C Sequence analysis of the entire coding region
Maturity-onset diabetes of the young (MODY) Institute of Human Genetics Cologne University Germany	7	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Proopiomelanocortin Deficiency (POMC Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Glucocorticoid Deficiency NGS Panel Fulgent Genetics United States	19	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Proopiomelanocortin Deficiency: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
MONOGENIC OBESITY DUE TO MELANOCORTIN-LEPTIN PATHWAY DEFICIENCY Laboratorio de Genetica Clinica SL Spain	6	6	C Sequence analysis of the entire coding region

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