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Results: 1 to 20 of 40 (representing 26 labs)

Tests names and labsConditionsGenes and analytesMethods

Hyper-IgE recurrent infection syndrome

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PulmoGene Panel (64 Genes)

Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine
United States
6964
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyper IgE Syndrome (HIES): STAT3 (known mutation)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • E Sequence analysis of select exons

Hyper IgE Syndrome (HIES): STAT3 (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
11
  • C Sequence analysis of the entire coding region

Hyper IgE Syndrome Sequencing Panel

PreventionGenetics
United States
44
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

STAT3. Complete sequencing

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

STAT3. Detection of the mutations c.1144C>T ( p.Arg382Trp), c.1145G>A ( p.Arg382Gln), c.1268G>A (p.Arg423Gln), c.1387_1389delGTG (p.Val463del) and c.1909G>A (p.Val637Met) by sequencing

Instituto de Medicina Genomica
Spain
11
  • T Targeted variant analysis

Autosomal Dominant Hyper IgE Syndrome via the STAT3 Gene

PreventionGenetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MitoMet®Plus aCGH Analysis

Baylor Miraca Genetics Laboratories
United States
845637
  • D Deletion/duplication analysis

STAT3 mutation analysis

DNA Diagnostics Laboratory Academic Medical Centre, University of Amsterdam
Netherlands
11
  • C Sequence analysis of the entire coding region

Hyper IgE Syndrome (Job Syndrome), Sequencing STAT3 Gene

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

Invitae Syndromic Combined Immunodeficiency (CID) Panel

Invitae
United States
5637
  • 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

Invitae Monogenic Autoimmunity Panel

Invitae
United States
10973
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Common Variable Immunodeficiency Panel

Invitae
United States
2917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Hyper IgE Syndrome Panel

Invitae
United States
64
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Focus Panel

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
14783
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Single gene testing STAT3

CeGaT GmbH
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hyperimmunoglobulin E syndrome

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

Results: 1 to 20 of 40

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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