Clinical and research tests for C2677132 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Maturity-onset Diabetes of the Young Panel Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine United States	14	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY Panel Genetic Services Laboratory University of Chicago United States	10	15	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PAX4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MODY and Neonatal Diabetes Panel, Sequencing ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	17	23	C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Invitae United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Monogenic Diabetes Panel PreventionGenetics, part of Exact Sciences United States	101	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypoglycemia Panel - Expanded PreventionGenetics, part of Exact Sciences United States	131	115	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity-onset diabetes of the young, type IX, 612225; MODY9 (MODY) (PAX4 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
Maturity Onset Diabetes of the Young (MODY) via the PAX4 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Maturity Onset Diabetes of the Young (MODY) Panel PreventionGenetics, part of Exact Sciences United States	20	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain	133	84	C Sequence analysis of the entire coding region
MODY type diabetes panel. NGS panel of 13 genes. Genologica Medica Spain	29	13	C Sequence analysis of the entire coding region
Comprehensive panel of monogenic diabetes. 28-gene NGS panel. Genologica Medica Spain	60	28	C Sequence analysis of the entire coding region
Maturity-Onset Diabetes of the Young (MODY) Expanded Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	22	10	C Sequence analysis of the entire coding region
Expanded Polycystic Kidney Disease NGS Panel Fulgent Genetics United States	61	34	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maturity-Onset Diabetes of the Young (MODY) NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	16	14	C Sequence analysis of the entire coding region
Diabetes MODY, Panel Massive Sequencing (NGS) 11 Genes Reference Laboratory Genetics Spain	19	11	C Sequence analysis of the entire coding region
Maturity Onset Diabetes of the Young (MODY) Asper Biogene Asper Biogene LLC Estonia	27	15	C Sequence analysis of the entire coding region
MATURITY-ONSET DIABETES OF THE YOUNG (MODY) TYPE 9 Laboratorio de Genetica Clinica SL Spain	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Diabetes MODY Types 4-10 , Deletions-Duplications (MLPA) PDX1, NEUROD1, KLF11, CEL, PAX4, INS Genes Reference Laboratory Genetics Spain	6	6	D Deletion/duplication analysis

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