Clinical and research tests for 5692 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
PSMB4 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
CANDLE Syndrome via the PSMB4 Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Partial Lipodystrophy (FPLD) Panel PreventionGenetics, part of Exact Sciences United States	29	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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
GeneSeq® Immuno: Periodic Fever Syndromes Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	1	58	C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	C Sequence analysis of the entire coding region
Haematological diseases panel _v.2.0 CGC Genetics Unilabs Portugal	1	344	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Arrhythmia Panel Mendelics Brazil	1	311	C Sequence analysis of the entire coding region
Cardiomyopathy Panel Mendelics Brazil	1	311	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Proteosome-associated autoinflammatory syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	4	4	C Sequence analysis of the entire coding region
PSMB4 Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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.