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Results: 1 to 20 of 35 (representing 26 labs)

Tests names and labsConditionsGenes and analytesMethods

Cryopyrinopathies

Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
United States
31
  • X Mutation scanning of select exons

Muckle-wells syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KidneySeq: A Comprehensive Inherited Kidney Disease Panel

Iowa Institute of Human Genetics University of Iowa
United States
124147
  • C Sequence analysis of the entire coding region

NLRP3. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Sequencing Panel

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

NLRP3/CIAS1. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes

ARUP Laboratories, Molecular Genetics and Genomics
United States
107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muckle-Wells Syndrome , Sequencing NLRP3 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

MUCKLE - WELLS SYNDROME

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Familial Cold Autoinflammatory Syndrome Panel

Invitae
United States
94
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory Syndromes Panel

Invitae
United States
4826
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
282207
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial amyloid nephropathy with urticaria and deafness

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
1911
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Abdominal Pain Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
6944
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammatory Syndrome Panel

Blueprint Genetics
Finland
625
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Periodic Fever Syndromes Panel

Invitae
United States
2012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NLRP3 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • C Sequence analysis of the entire coding region

Periodic Fever NGS Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
199
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 35

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.

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