Clinical and research tests for C4551602 - Genetic Testing Registry (GTR)

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiology Sequencing- Congenital heart Disease Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	24	24	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
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Aortic diseases Panel Health in Code Spain	71	35	C Sequence analysis of the entire coding region
Rasopathies NGS Panel Health in Code Spain	26	12	C Sequence analysis of the entire coding region
Aortic Valvular Diseases Panel Health in Code Spain	60	30	C Sequence analysis of the entire coding region
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
Pan Cardiomyopathy Panel (62 Genes) Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine United States	100	61	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PTPN11-related Noonan Syndrome Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	1	E Sequence analysis of select exons
PTPN11-related Noonan Syndrome Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS Chile	1	1	E Sequence analysis of select exons
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
Solid Tumor Panel Centogene AG - the Rare Disease Company Germany	218	135	C Sequence analysis of the entire coding region
Myeloid Tumor Panel Centogene AG - the Rare Disease Company Germany	74	34	C Sequence analysis of the entire coding region
PTPN11 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis 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: 1 to 20 of 144

Results: 1 to 20 of 144