Clinical and research tests for C5193055 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 2695

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CMA-Affymetrix 750K Juno Genomics Hangzhou Juno Genomics, Inc China	4	2	D Deletion/duplication analysis
Wilson disease Juno Genomics Hangzhou Juno Genomics, Inc China	1	1	C Sequence analysis of the entire coding region
Friedreich Ataxia (FRDA) via the FXN GAA Repeat Expansion PreventionGenetics, part of Exact Sciences United States	1	1	T Targeted variant analysis
Low Levels of Free Carnitine (C0) via the SLC22A5 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
Elevated Levels of C6, C8 and C10 Acylcarnitine via the ACADM 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
Elevated Levels of C14 and C14:1 Acylcarnitine via the ACADVL 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
Elevated Levels of C0/(C16+C18) Acylcarnitine via the CPT1A 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
Elevated C5-DC Acylcarnitine via the GCDH 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
Alzheimer's Disease, Familial, Plus APOE Panel PreventionGenetics, part of Exact Sciences United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
YRDC Labcorp Genetics (formerly Invitae) LabCorp United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Surgical Risk Screen Labcorp Genetics (formerly Invitae) LabCorp United States	24	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SLC36A2 Labcorp Genetics (formerly Invitae) LabCorp United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Frontotemporal Dementia with C9orf72 Panel Labcorp Genetics (formerly Invitae) LabCorp United States	30	14	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FOXC2 Labcorp Genetics (formerly Invitae) LabCorp United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae FMR1-Fragile X Syndrome and Related Disorders Repeat Expansion Test Labcorp Genetics (formerly Invitae) LabCorp United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae FMR1-Carrier Labcorp Genetics (formerly Invitae) LabCorp United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae eMERGE Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CYP11B2 Labcorp Genetics (formerly Invitae) LabCorp United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CHRNA3 Labcorp Genetics (formerly Invitae) LabCorp 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.