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Results: 1 to 20 of 25 (representing 14 labs)

Tests names and labsConditionsGenes and analytesMethods

Cold autoinflammatory syndrome type 2

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

Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 Gene

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

NLRP12. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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

NLRP12. Complete sequencing

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

NALP12. Complete sequencing

Instituto de Medicina Genomica
Spain
21
  • 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

Familial Cold Autoinflammatory Syndrome Type 2 , Sequencing NLRP12 Gene

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

NLRP12 Deletion/duplication analysis

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

NLRP12 Sequencing

Molecular Genetics Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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

Autoinflammatory Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4126
  • D Deletion/duplication analysis
  • 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

NLRP12 Gene Sequencing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • 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

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 25

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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