Clinical and research tests for C0268634 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Postmortem Screening, Bile and Blood Spot Mayo Clinic Laboratories Mayo Clinic United States	3	1	A Analyte
Fatty Acid Oxidation Probe Assay, Fibroblast Culture Mayo Clinic Laboratories Mayo Clinic United States	7	1	A Analyte
Deficiency of 3-hydroxyacyl-CoA dehydrogenase GENETIX Centro de Investigación en Genética Humana y Reproductiva Colombia	1	1	C Sequence analysis of the entire coding region
Comprehensive Inherited Metabolic Disorders and Mitochondrial Disorders (Nuclear Genes only) Panel PreventionGenetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Fatty Acid Oxidation Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	2	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
urine organic acid profile, qualitative IU Genetic Testing Laboratories Indiana University School of Medicine United States	3	1	A Analyte
Acylcarnitine profile, plasma, quantitative IU Genetic Testing Laboratories Indiana University School of Medicine United States	3	1	A Analyte
Neonatal Crisis Panel PreventionGenetics United States	21	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Organic Acid Analysis, Urine Biochemical Genetics Laboratory LabCorp United States	4	1	A Analyte
Acylcarnitine Profile, Quantitative, Plasma Biochemical Genetics Laboratory LabCorp United States	3	1	A Analyte
ACADM Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Syndrome Panel Blueprint Genetics Finland	1	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Fatty Acid Oxidation Deficiency Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University United States	4	22	C Sequence analysis of the entire coding region
Invitae Elevated C4 Panel Invitae United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C14 and C14:1 (VLCAD deficiency) Test Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C5 Panel Invitae United States	4	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C16-OH, C16:1-OH, C18-OH and C18:1-OH Panel Invitae United States	3	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C0/(C16+C18) Test Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated C16, C16:1, C18, and C18:1 Panel Invitae United States	6	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Low C0 Test Invitae United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.