Clinical and research tests for C1856061 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 95

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Disorders Related to Metabolism of Cobalamin, Folate and Homocysteine Panel PreventionGenetics, part of Exact Sciences United States	34	39	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Methylmalonic Acidemia and Homocystinuria Panel Labcorp Genetics (formerly Invitae) LabCorp United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	327	300	C Sequence analysis of the entire coding region
Severe MTHFR Deficiency via the MTHFR 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
Disorders of Folate Metabolism and Transport Panel PreventionGenetics, part of Exact Sciences United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	158	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	108	97	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Homocystinuria Panel PreventionGenetics, part of Exact Sciences United States	5	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MTHFR deficiency Molecular Haemostasis & Thrombosis Synnovis Analytics LLP - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	1	1	C Sequence analysis of the entire coding region
Thrombophilia Mutation Panel Baylor Genetics United States	11	3	T Targeted variant analysis
MTHFR Thermolabile Variant Analysis Baylor Genetics United States	4	1	T Targeted variant analysis
Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis Quest Diagnostics Nichols Institute San Juan Capistrano United States	1	1	T Targeted variant analysis
Homocysteine Determination - Plasma Baylor Genetics United States	10	2	A Analyte
Amino Acid Analysis - Cerebrospinal Fluid Baylor Genetics United States	4	26	A Analyte
NGS Neurodegenerative disorders Multi-Gene Panel (73 genes) Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	41	60	C Sequence analysis of the entire coding region
MTHFR Department of Laboratory Medicine P.D. Hinduja National Hospital - MRC India	1	1	T Targeted variant analysis
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Metabolic epilepsy panel. 41-gene NGS panel. Genologica Medica Spain	53	41	C Sequence analysis of the entire coding region
Epileptic encephalopathy panel. 128-gene NGS panel. Genologica Medica Spain	197	128	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 95

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.

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Results: 21 to 40 of 95

Results: 21 to 40 of 95