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Results: 1 to 20 of 46

Tests names and labsConditionsGenes, analytes, and microbesMethods

TNF-Receptor-Associated Periodic Syndrome

Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
United States
11
  • X Mutation scanning of select exons

Autoinflammatory Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
182117
  • C Sequence analysis of the entire coding region

TNFRSF1A - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Periodic fever, familial, 142680, Autosomal dominant (Tumor necrosis factor receptor 1 associated periodic syndrome) (TNFRSF1A gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

RenalZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
527338
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Periodic Fever Syndromes Panel

Invitae
United States
3218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
1513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel

PreventionGenetics, part of Exact Sciences
United States
2828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Ehlers-Danlos Syndromes (EDS) Panel

PreventionGenetics, part of Exact Sciences
United States
9965
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TNF-Receptor Associated Periodic Syndrome (TRAPS) via the TNFRSF1A Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

TRAPS

Department of Clinical Immunology Odense University Hospital
Denmark
11
  • C Sequence analysis of the entire coding region

Familial Amyloidosis

Genologica Medica
Spain
4419
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel (7 genes)

GeneDx
United States
107
  • C Sequence analysis of the entire coding region

Periodic Fever Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
178
  • C Sequence analysis of the entire coding region

TNFRSF1A

Institute for Human Genetics University Medical Center Freiburg
Germany
21
  • C Sequence analysis of the entire coding region

Periodic Fever NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1514
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 46

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.