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Results: 1 to 20 of 20

Tests names and labsConditionsGenes, analytes, and microbesMethods

TAPBP - 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

Bare lymphocyte syndrome, type I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAPBP 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 I, 604571, Autosomal recessive (Immunodeficiency by defective expression of HLA class 1) (TAPBP 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

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

Immune Disorders Panel

CGC Genetics Unilabs
Portugal
1385
  • C Sequence analysis of the entire coding region

Neonatal Baby Cheek Screening Test

Mendelics
Brazil
1342
  • C Sequence analysis of the entire coding region

Primary Immunodeficiencies Panel

Mendelics
Brazil
159
  • C Sequence analysis of the entire coding region

Immunodeficiencies and Immunologic Diseases Panel (Complete)

Mendelics
Brazil
1397
  • C Sequence analysis of the entire coding region

Treatable Disorders Panel

Mendelics
Brazil
1369
  • C Sequence analysis of the entire coding region

Bare lymphocyte syndrome: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
56
  • C Sequence analysis of the entire coding region

Genomic Unity® Custom Analysis

Variantyx, Inc.
United States
14054
  • D Deletion/duplication analysis
  • X Mutation scanning of select exons
  • 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

IMMUNODEFICIENCY BY DEFECTIVE EXPRESSION OF HLA CLASS 1 (BARE LYMPHOCYTE SYNDROME TYPE 1)

Laboratorio de Genetica Clinica SL
Spain
13
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency Panel

Blueprint Genetics
Finland
179
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Blueprint Genetics
Finland
2275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Combined immunodeficiencies Panel

CeGaT GmbH
Germany
2360
  • C Sequence analysis of the entire coding region

TAPBP Single Gene

Fulgent Genetics
United States
11
  • D Deletion/duplication analysis
  • 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.