Clinical and research tests for C0587248 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Cardiomyopathy and Arrhythmia Panel Mayo Clinic Laboratories Mayo Clinic United States	73	105	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	68	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypertrophic Cardiomyopathy Panel Mayo Clinic Laboratories Mayo Clinic United States	44	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Noonan Syndrome and Related Panel Mayo Clinic Laboratories Mayo Clinic United States	15	20	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	8	18	D Deletion/duplication analysis E Sequence analysis of select exons
Non-NF1 RASopathy NGS Panel Medical Genomics Laboratory Department of Genetics UAB United States	7	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COSTELLO SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	1	1	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
RASOPATHY-RELATED SYNDROME Clinical Genomics Unit Hospital Universitari Germans Trias i Pujol Spain	9	19	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
CentoCancer Comprehensive Centogene AG - the Rare Disease Company Germany	156	107	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HRAS - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	6	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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neuromuscular Panel Centogene AG - the Rare Disease Company Germany	325	316	D Deletion/duplication analysis X Mutation scanning 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.