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Results: 1 to 20 of 27

Tests names and labsConditionsGenes and analytesMethods

Periodic Fever Syndromes Sequencing Panel with CNV Detection

PreventionGenetics
United States
1513
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Periodic Fever NGS and Deletion/Duplication Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
199
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel, Sequencing and Deletion/Duplication

ARUP Laboratories, Molecular Genetics and Genomics
United States
107
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
137
  • D Deletion/duplication analysis

Invitae Periodic Fever Syndromes Panel

Invitae
United States
2012
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Periodic Fever Syndromes: Sequencing Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
137
  • C Sequence analysis of the entire coding region

Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes

Reference Laboratory Genetics
Spain
97
  • C Sequence analysis of the entire coding region

Periodic Fevers Syndrome NGS Panel

Fulgent Genetics
United States
147
  • 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 panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
2819
  • C Sequence analysis of the entire coding region

Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection

PreventionGenetics
United States
2726
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Comprehensive Epilepsy NGS Panel

Fulgent Genetics
United States
3030447
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes

Reference Laboratory Genetics
Spain
86
  • C Sequence analysis of the entire coding region

Autoinflammatory Syndrome Panel

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

Hereditary amyloidosis (NGS panel of 19 genes)

CGC Genetics
Portugal
1719
  • C Sequence analysis of the entire coding region

Hereditary amyloidosis (NGS panel of 19 genes)

CGC Genetics
Portugal
1719
  • C Sequence analysis of the entire coding region

Autoinflammatory diseases Panel

CeGaT GmbH
Germany
1620
  • -- Sequence analysis of the entire coding region

Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel

EGL Genetic Diagnostics Eurofins Clinical Diagnostics
United States
4926
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
8746
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 27

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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