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Results: 1 to 20 of 53 (representing 34 labs)

Tests names and labsConditionsGenes and analytesMethods

CentoICU platinum

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

CentoICU platinum plus

Centogene AG - the Rare Disease Company
Germany
769514
  • C Sequence analysis of the entire coding region

Mevalonate Kinase Deficiency

Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute
United States
11
  • X Mutation scanning of select exons

Periodic Fever Syndromes Sequencing Panel

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

Hyper IgD Syndrome/Mevalonate Aciduria via the MVK Gene

PreventionGenetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MVK. Detection of the mutations p.Val377Ile by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

MVK. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes

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

Hyper IgD Syndrome (deletion/duplication analysis of MVK gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

MVK

Institute for Human Genetics University Clinic Freiburg
Germany
31
  • C Sequence analysis of the entire coding region

Hyper IgD Syndrome (deletion/duplication analysis of MVK gene)

CGC Genetics
Portugal
11
  • D Deletion/duplication analysis

HYPER-IgD SYNDROME (MEVALONIC ACIDURIA)

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

Hyper IgD and Periodic Fever Syndrome, Sequencing Exons (2,9,11) MVK Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Hyper IgD and Periodic Fever Syndrome, Sequencing MVK Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel

Invitae
United States
3621
  • 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

Invitae Monogenic Inflammatory Bowel Disease Panel

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

Hyperimmunoglobulin D with periodic fever

Labor Dr. Wisplinghoff
Germany
11
  • C Sequence analysis of the entire coding region

Autoinflammatory Disorders Spotlight Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
4126
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 53

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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