Clinical and research tests for C1855100 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 43

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Organic Acidemias Panel Invitae United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Methlymalonyl-CoA Epimerase Deficiency via the MCEE 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
MCEE Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
MCEE Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
MCEE Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
MCEE Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MitoMet®Plus aCGH Analysis Baylor Genetics United States	842	637	D Deletion/duplication analysis
Methylmalonic Acidemia Panel PreventionGenetics, part of Exact Sciences United States	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes. Genologica Medica Spain	53	53	C Sequence analysis of the entire coding region
MCEE Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	355	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Methylmalonic Aciduria and Homocystinuria Asper Biogene Asper Biogene LLC Estonia	22	23	C Sequence analysis of the entire coding region
METHYLMALONIC ACIDEMIA, VITAMIN B12-UNRESPONSIVE Laboratorio de Genetica Clinica SL Spain	2	2	C Sequence analysis of the entire coding region
Methylmalonic Acidemia Sequencing NextGen Panel Children's Hospital Colorado Precision Diagnostics Laboratory Children's Hospital Colorado United States	25	13	C Sequence analysis of the entire coding region
METHYLMALONYL-CoA EPIMERASE DEFICIENCY Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Cobalamin/Propionate/Homocysteine Metabolism Related Disorders Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	26	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MCEE Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5127	4672	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

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Results: 21 to 40 of 43

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.