Clinical and research tests for C0023264 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Hereditary Cancer Screening - Colorectal & Gastric Cancer Panel (including Pancreatic Cancer) - (43 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	58	43	X Mutation scanning of select exons
Hereditary Cancer Screening - Common Hereditary Cancer Panel (41 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	47	41	X Mutation scanning of select exons
Hereditary Cancer Screening - Nervous System & Endocrine Cancer Panel (44 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	52	44	X Mutation scanning of select exons
Hereditary Cancer Screening - Renal/Urinary Tract Cancer Panel (Including prostate and kidney cancer) - (39 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	40	39	X Mutation scanning of select exons
Hereditary Cancer Screening - Full Hereditary Cancer Panel (99 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	109	99	X Mutation scanning of select exons
Cardiology Sequencing- Arrhythmia Comprehensive Panel (134 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	88	134	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	185	145	D Deletion/duplication analysis I Microsatellite instability testing (MSI) X Mutation scanning of select exons T Targeted variant analysis
Mitochondrial Genome Sequencing and Depletion/Integrity Panel Molecular Genetics Laboratory London Health Sciences Centre Canada	48	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	12	221	D Deletion/duplication analysis S Mutation scanning of the entire coding region E Sequence analysis of select exons
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Mitochondrial Full Genome Analysis Mayo Clinic Laboratories Mayo Clinic United States	29	37	C Sequence analysis of the entire coding region
PGmito - Mitochondrial Genome Sequencing PreventionGenetics, part of Exact Sciences United States	16	38	C Sequence analysis of the entire coding region
Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States	292	253	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial; LS (Leigh syndrome) (BCS1L gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFA9 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leigh syndrome, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFS4 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Leigh syndrome due to mitochondrial complex I deficiency, 256000, Autosomal recessive, Mitochondrial (Leigh syndrome) (NDUFAF6 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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.