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Results: 1 to 20 of 62

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Tempus xT

Tempus Labs, Inc.
United States
2646
  • I Microsatellite instability testing (MSI)
  • C Sequence analysis of the entire coding region

FoundationOne® Heme

Foundation Medicine, Inc.
United States
2405
  • D Deletion/duplication analysis
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

NFKBIA - 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
754562
  • D Deletion/duplication analysis

MayoComplete Solid Tumor Panel

Mayo Clinic Laboratories Mayo Clinic
United States
1476
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region

JAX SOMASEQ

The Jackson Laboratory for Genomic Medicine
United States
1517
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Endeavor

PathGroup
United States
73505
  • C Sequence analysis of the entire coding region

OmniSeq INSIGHT

OmniSeq, Inc.
United States
1525
  • R RNA analysis
  • C Sequence analysis of the entire coding region

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

GTC-Solid Tumor Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1434
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Solid Tumor Profile

Genomic Testing Cooperative, LCA
United States
1434
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile Plus Fusion/Expression (DNA and RNA)

Genomic Testing Cooperative, LCA
United States
1254
  • R RNA analysis
  • C Sequence analysis of the entire coding region

GTC-Hematology Profile

Genomic Testing Cooperative, LCA
United States
1247
  • C Sequence analysis of the entire coding region

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132, Autosomal dominant (Hypohidrotic ectodermal dysplasia) (NFKBIA 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

Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, 612132, Autosomal dominant (Hypohidrotic ectodermal dysplasia) (NFKBIA 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

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

Hyper IgM Syndrome Panel

PreventionGenetics, part of Exact Sciences
United States
1111
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

NeoTYPE® Discovery Profile for Solid Tumors

NeoGenomics Laboratories NeoGenomics Laboratories, Inc.
United States
1315
  • I Immunohistochemistry
  • F Fluorescence in situ hybridization (FISH)
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 62

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.