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Results: 1 to 20 of 45

Tests names and labsConditionsGenes, analytes, and microbesMethods

Ethylmalonic encephalopathy (sequence analysis of ETHE1 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Autoinflammatory Gene Panel

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

NLRP12 Gene Cold autoinflammatory syndrome type 2 NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

NLRP12 - NGS including CNV analysis

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

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Familial cold autoinflammatory syndrome 2, 611762, Autosomal dominant; FCAS2 (NLRP12-associated hereditary periodic fever syndrome) (NLRP12 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

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Invitae Periodic Fever Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3218
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Familial Cold Autoinflammatory Syndrome 2 via the NLRP12 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

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

GeneSeq® Immuno: Periodic Fever Syndromes Panel

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
158
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Periodic Fever Syndrome (WES based NGS panel of 10 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
110
  • C Sequence analysis of the entire coding region

Haematological diseases panel _v.2.0

CGC Genetics Unilabs
Portugal
1344
  • C Sequence analysis of the entire coding region

Deafness or hypoacusis panel_v.2.0

CGC Genetics Unilabs
Portugal
1272
  • C Sequence analysis of the entire coding region

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Familial cold autoinflammatory syndrome 2 (sequence analysis of NLRP12 gene)

CGC Genetics Unilabs
Portugal
11
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 45

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.