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Results: 21 to 40 of 44

Tests names and labsConditionsGenes, analytes, and microbesMethods

Periodic Fever Syndrome Panel

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

NLRP3

Institute for Human Genetics University Medical Center Freiburg
Germany
51
  • C Sequence analysis of the entire coding region

Neonatal Onset Multisystem Inflammatory Disease (NLRP3 Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Syndromic Hearing Loss NGS Panel

Fulgent Genetics
United States
22383
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Comprehensive Hearing Loss NGS Panel

Fulgent Genetics
United States
332167
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Muckle-Wells Syndrome (NLRP3 Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • 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

Hearing Loss Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
249181
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CINCA/ NOMID SYNDROME (CHRONIC INFANTILE NEUROLOGICAL CUTANEOUS ARTICULAR SYNDROME)

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

NLRP3 Sequencing

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

Autoinflammatory Syndrome Panel

Blueprint Genetics
Finland
632
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CINCA syndrome

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

Single gene testing NLRP3

CeGaT GmbH
Germany
31
  • C Sequence analysis of the entire coding region

NLRP3

Institute of Human Genetics Medical University Innsbruck
Austria
31
  • S Mutation scanning of the entire coding region

NLRP3 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51284672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Autoinflammatory panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2719
  • C Sequence analysis of the entire coding region

CINCA syndrome

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Chronic Infantile Neurological Cutaneous and Articular Syndrome

MedGene
Slovakia
11
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 44

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.