Clinical and research tests for 614810 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Multiple sclerosis, susceptibility to, 5, 614810; MS5 (TNFRSF1A 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
TNFRSF1A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	226	154	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Invitae Periodic Fever Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	32	18	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Amyloidosis Genologica Medica Spain	44	19	C Sequence analysis of the entire coding region
Periodic Fever Syndrome Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	17	8	C Sequence analysis of the entire coding region
Mediterranean/periodic Fever panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	12	12	C Sequence analysis of the entire coding region
Auto-inflammatory disease panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	34	34	C Sequence analysis of the entire coding region
Multiple sclerosis, susceptibility to: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	3	4	C Sequence analysis of the entire coding region
Tumor Necrosis Factor Receptor-associated Periodic Syndrome (TNFRSF1A Single Gene Test) Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Periodic Fever/Autoinflammatory Disorders NGS Panel Fulgent Genetics United States	68	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Single gene testing TNFRSF1A CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
TNFRSF1A Institute of Human Genetics Medical University Innsbruck Austria	2	1	S Mutation scanning of the entire coding region
TNFRSF1A Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	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.