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Results: 1 to 20 of 33

Tests names and labsConditionsGenes, analytes, and microbesMethods

NLRP3 - NGS including CNV analysis

Centogene US, LLC - The Rare Disease Company
United States
51
  • 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

Familial cold-induced inflammatory syndrome 1, 120100, Autosomal dominant; FCAS1 (Familial cold urticaria) (NLRP3 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Genetic Diagnosis and Research Centre
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
United States
356211
  • 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

Familial cold urticaria

Department of Clinical Immunology Odense University Hospital
Denmark
11
  • E Sequence analysis of select exons

Familial Amyloidosis

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

NLRP3 Exon 3 Sequencing

GeneDx
United States
41
  • E Sequence analysis of select exons

NLRP3 Exon 3 Sequencing

GeneDx
United States
41
  • E Sequence analysis of select exons

Periodic Fever Syndromes Panel (7 genes)

GeneDx
United States
107
  • C Sequence analysis of the entire coding region

Periodic Fever Syndrome Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
178
  • C Sequence analysis of the entire coding region

Auto-inflammatory disease panel

Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital
United Arab Emirates
3434
  • C Sequence analysis of the entire coding region

NLRP3

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

Familial cold autoinflammatory syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
44
  • C Sequence analysis of the entire coding region

Periodic Fever NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
1514
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 33

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