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Results: 1 to 20 of 24

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

STAT1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
754562
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Monogenic Diabetes Panel

PreventionGenetics, part of Exact Sciences
United States
10154
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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 31C, autosomal dominant, 614162, Autosomal dominant; IMD31C (Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome) (STAT1 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 31C, autosomal dominant, 614162, Autosomal dominant; IMD31C (Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome) (STAT1 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
10867
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

Severe-Chronic EBV (CAEBV) Immunodeficiency Panel

CNH Molecular Diagnostics Laboratory Childrens National Hospital
United States
7044
  • 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

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY SYNDROME

Laboratorio de Genetica Clinica SL
Spain
21
  • C Sequence analysis of the entire coding region

Defects in innate immunity Panel

CeGaT GmbH
Germany
1619
  • C Sequence analysis of the entire coding region

STAT1 Sequencing

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
31
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Results: 1 to 20 of 24

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.