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Results: 1 to 14 of 14

Tests names and labsConditionsGenes, analytes, and microbesMethods

NLRP1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • 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

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Corneal Dystrophies Panel

Invitae
United States
6533
  • D Deletion/duplication analysis

Vitiligo-associated multiple autoimmune disease susceptibility 1, 606579; VAMAS1 (NLRP1 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

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

NLRP1

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Bone Marrow Failure Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
9562
  • C Sequence analysis of the entire coding region

Comprehensive Primary Immunodeficiency NGS Panel

Fulgent Genetics
United States
1048472
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever/Autoinflammatory Disorders NGS Panel

Fulgent Genetics
United States
6828
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Vitiligo

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

NLRP1 Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 14 of 14

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.