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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

Hyper-IgE Syndrome Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3221
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TYK2 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Mendelian Susceptibility to Mycobacterial Disease Panel

PreventionGenetics, part of Exact Sciences
United States
2917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Immunodeficiency 35, 611521, Autosomal recessive; IMD35 (Susceptibility to infection due to TYK2 deficiency) (TYK2 gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Immunodeficiency 35, 611521, Autosomal recessive; IMD35 (Susceptibility to infection due to TYK2 deficiency) (TYK2 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Invitae Hyper IgE Syndrome Panel

Invitae
United States
1611
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

TYK2 Deficiency via the TYK2 Gene

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

Hyper IgE Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
55
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Immunodeficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6960
  • C Sequence analysis of the entire coding region

Hyper-IgE Syndrome NGS Panel

Fulgent Genetics
United States
305
  • 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

Severe Combined Immunodeficiency NGS Panel

Fulgent Genetics
United States
33090
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HYPER IgE SYNDROME (AUTOSOMAL RECESSIVE)

Laboratorio de Genetica Clinica SL
Spain
33
  • C Sequence analysis of the entire coding region

TYK2 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

TYK2 Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HIES syndromes panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
43
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 20

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.