Clinical and research tests for C1859499 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 58

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
qCarrier Plus Quantitative Genomic Medicine Laboratories, SL Spain	326	300	C Sequence analysis of the entire coding region
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 Elevated C5-OH Panel Labcorp Genetics (formerly Invitae) LabCorp United States	17	15	D Deletion/duplication analysis
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
MCCC2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	1	1	T Targeted variant analysis
MCCC2 Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis
MCCC2 Sequence Analysis Baylor Genetics United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
MCCC2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MCCC1 & MCCC2 Sequence Analysis Baylor Genetics United States	2	2	C Sequence analysis of the entire coding region
3-Methylcrotonyl-CoA Carboxylase Deficiency Comprehensive Panel (Sequencing and Deletion/Duplication Analysis) Baylor Genetics United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel Deletion/Duplication Panel Baylor Genetics United States	2	2	D Deletion/duplication analysis
3-Methylcrotonyl-CoA Carboxylase Deficiency via the MCCC2 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
3-Methylcrotonyl-CoA Carboxylase Deficiency Panel PreventionGenetics, part of Exact Sciences United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
3-Methylcrotonyl-CoA carboxylase deficiency: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	2	2	C Sequence analysis of the entire coding region
Horizon 274 Male Natera, Inc. United States	244	254	E Sequence analysis of select exons C Sequence analysis of the entire coding region
MCCC2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	1	1	E Sequence analysis of select exons
Horizon 274 Plus TSE Natera, Inc. United States	265	274	E Enzyme assay E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis

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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.

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Results: 21 to 40 of 58

Results: 21 to 40 of 58