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Results: 21 to 40 of 77

Tests names and labsConditionsGenes, analytes, and microbesMethods

TRAPS

Department of Clinical Immunology Odense University Hospital
Denmark
11
  • C Sequence analysis of the entire coding region

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

Genomic Unity® Renal Disorders Analysis

Variantyx, Inc.
United States
1425
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Hereditary amyloidosis (WES based NGS panel of 21 genes, including CNV analysis)

CGC Genetics Unilabs
Portugal
121
  • 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

Immune Disorders Panel

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

Familial periodic fever (sequence analysis of TNFRSF1A gene)

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

Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene)

CGC Genetics Unilabs
Portugal
11
  • D Deletion/duplication analysis

Autoinflammatory Diseases Panel

Mendelics
Brazil
122
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

HEREDITARY AMYLOIDOSIS SYNDROME PANEL

Laboratorio de Genetica Clinica SL
Spain
122
  • E Sequence analysis of select exons

PERIODIC FEVER EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
117
  • E Sequence analysis of select exons

AUTOINFLAMMATORY SYNDROMES EXOME PANEL

Laboratorio de Genetica Clinica SL
Spain
1108
  • E Sequence analysis of select exons

Familial Amyloidosis

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

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • C Sequence analysis of the entire coding region

Periodic Fever Syndrome

Genetics Laboratory University of Oklahoma Health Sciences Center
United States
17
  • C Sequence analysis of the entire coding region

Amyloid Related Disorders (NGS Panel and Copy Number Analysis)

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
516
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistocytosis (HLH) Genetic Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
436
  • C Sequence analysis of the entire coding region

Results: 21 to 40 of 77

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.