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Results: 1 to 20 of 29

Tests names and labsConditionsGenes, analytes, and microbesMethods

Tempus xT

Tempus Labs, Inc.
United States
2647
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

TAP1 - 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) (TAP1 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) (TAP1 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 I (Immunodeficiency by defective expression of HLA class 1) (TAP1 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

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • 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

MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES)

Laboratorio de Genetica Clinica SL
Spain
11372
  • E Sequence analysis of select exons

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

TAP1 Deletion/duplication analysis

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
11
  • D Deletion/duplication analysis

Very Early Onset Inflammatory Bowel Disease (VEO-IBD) Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
197
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 29

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.