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Results: 1 to 20 of 70

Tests names and labsConditionsGenes, analytes, and microbesMethods

RAG1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RAG2 - 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 Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Congenital Diarrhea Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (DCLRE1C 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

Severe combined immunodeficiency, Athabascan type, 602450, Autosomal recessive (Severe combined immunodeficiency due to DCLRE1C deficiency) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (DCLRE1C 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

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG1 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

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG1 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

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (DCLRE1C 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

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG2 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

Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG2 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

Severe Combined Immunodeficiency (SCID) Panel

PreventionGenetics, part of Exact Sciences
United States
2117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

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 Comprehensive Carrier Screen

Labcorp Genetics (formerly Invitae) LabCorp
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Antibody Deficiency Panel

PreventionGenetics, part of Exact Sciences
United States
5046
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
10867
  • D Deletion/duplication analysis

Results: 1 to 20 of 70

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