Clinical and research tests for 605410 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
FOLR1 Gene Neurodegeneration due to cerebral folate transport deficiency NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Comprehensive Arrhythmia Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	36	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Arrhythmia General Panel Health in Code Spain	1	218	C Sequence analysis of the entire coding region
Brugada syndrome / J wave syndrome Health in Code Spain	1	25	C Sequence analysis of the entire coding region
Cardiovascular Diseases_General Panel Health in Code Spain	1	380	C Sequence analysis of the entire coding region
Ventricular arrhythmia and sudden death without structural heart disease Health in Code Spain	1	77	C Sequence analysis of the entire coding region
Long QT Syndrome Extended Panel Health in Code Spain	1	28	C Sequence analysis of the entire coding region
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	25	C Sequence analysis of the entire coding region T Targeted variant analysis
CHILDHOOD EPILEPSY Amplexa Genetics Amplexa Genetics A/S Denmark	1	125	S Mutation scanning of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Cardiac channelopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States	1	41	C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	1	41	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Brugada syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	18	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cardiac channelopathy Deletion/ Duplication panel HNL Genomics Connective Tissue Gene Tests United States	1	41	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.