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Results: 1 to 20 of 52

Tests names and labsConditionsGenes, analytes, and microbesMethods

CIITA - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

RFX5 - NGS including CNV analysis

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

RFXANK - 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

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
754562
  • D Deletion/duplication analysis

Bare lymphocyte syndrome, type II, complementation group C, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFX5 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

Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA 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

Bare lymphocyte syndrome, type II, complementation group C, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFX5 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

Bare lymphocyte syndrome, type II, complementation group D, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXAP 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

Bare lymphocyte syndrome, type II, complementation group D, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXAP 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

Bare lymphocyte syndrome, type II, complementation group A, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (CIITA 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

MHC class II deficiency, complementation group B, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXANK 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

MHC class II deficiency, complementation group B, 209920, Autosomal recessive (Immunodeficiency by defective expression of HLA class 2) (RFXANK 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 Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel

Invitae
United States
177130
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

Integrated Genetics Westborough LabCorp
United States
330746
  • T Targeted variant analysis

Results: 1 to 20 of 52

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.