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Results: 1 to 15 of 15

Tests names and labsConditionsGenes, analytes, and microbesMethods

CentoImmuno Panel

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

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • 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 30, 614891, Autosomal recessive; IMD30 (Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency) (IL12RB1 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 30, 614891, Autosomal recessive; IMD30 (Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency) (IL12RB1 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

IL-12 Receptor B1 Deficiency via the IL12RB1 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

IL12RB1 Gene Sequencing (2 day STAT TAT)

Machaon Diagnostics
United States
11
  • E Sequence analysis of select exons

Immunodeficiency: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
6960
  • 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

Immunodeficiency Type 30 , Sequencing IL12RB1 Gene

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

IL12RB1 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

Results: 1 to 15 of 15

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.