U.S. flag

An official website of the United States government

Filters

See more specimen types...
See more states

Other countries

See more countries

Results: 1 to 20 of 48

Tests names and labsConditionsGenes, analytes, and microbesMethods

Cryopyrinopathies

Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
United States
31
  • 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

Invitae Expanded Renal Disease Panel

Invitae
United States
693388
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NLRP3 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Comprehensive Deafness Panel

Invitae
United States
405219
  • D Deletion/duplication analysis

CINCA syndrome, 607115, Autosomal dominant (CINCA syndrome) (NLRP3 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

CINCA syndrome, 607115, Autosomal dominant (CINCA syndrome) (NLRP3 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

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

RenalZoom

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

Hereditary Hearing Loss and Deafness Panel

PreventionGenetics, part of Exact Sciences
United States
360222
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Cryopyrin-Associated Periodic Syndromes via the NLRP3 Gene

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

Familial Amyloidosis

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

CINCA syndrome: Full gene sequencing

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
11
  • C Sequence analysis of the entire coding region

CIAS1 Gene Mutations

Duzen Laboratories Duzen BBAGUAS
Turkey
31
  • C Sequence analysis of the entire coding region

CINCA syndrome

Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
Germany
11
  • C Sequence analysis of the entire coding region

NLRP3 Exon 3 Sequencing

GeneDx
United States
41
  • E Sequence analysis of select exons

Results: 1 to 20 of 48

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.