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Results: 1 to 20 of 33

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

NLRP12. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel

PreventionGenetics
United States
2726
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NALP12. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • C Sequence analysis of the entire coding region

MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS

Instituto de Medicina Genomica
Spain
44
  • C Sequence analysis of the entire coding region

NLRP3. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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

NLRP3

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • 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 COLD AUTOINFLAMMATORY SYNDROME

Laboratorio de Genetica Clinica SL
Spain
13
  • 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

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

Syndromes with immunodeficiency Panel

CeGaT GmbH
Germany
3338
  • C Sequence analysis of the entire coding region

Autoinflammatory diseases Panel

CeGaT GmbH
Germany
1620
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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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