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Results: 1 to 20 of 31

Tests names and labsConditionsGenes, analytes, and microbesMethods

Severe Combined Immunodeficiency Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6163
  • C Sequence analysis of the entire coding region

Tempus xT assay

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

Signal PanCancer Panel

Sema4
United States
12196
  • D Deletion/duplication analysis
  • I Microsatellite instability testing (MSI)
  • R RNA analysis
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region
  • T Targeted variant 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 Genetic Diagnosis and Research Centre
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 Genetic Diagnosis and Research Centre
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 Genetic Diagnosis and Research Centre
Turkey
11
  • C Sequence analysis of the entire coding region

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

Invitae
United States
173127
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Invitae
United States
530404
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
843637
  • D Deletion/duplication analysis

Bare lymphocyte syndrome: Full gene sequencing panel

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

Primary Immunodeficiency (WES based NGS panel of 334 genes, including CNV analysis)

CGC Genetics
Portugal
1334
  • 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

Immunodeficiencies affecting cellular and humoral immunity (WES based NGS panel of 52 genes, including CNV analysis)

CGC Genetics
Portugal
6152
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

LifeLabs Genetics
Canada
1255
  • C Sequence analysis of the entire coding region

COMPREHENSIVE IMMUNODEFICIENCY AND INFLAMMATORY BOWEL DISEASE PANEL

Sema4
United States
358250
  • C Sequence analysis of the entire coding region

PRIMARY IMMUNODEFICIENCY PANEL

Sema4
United States
299206
  • C Sequence analysis of the entire coding region

Immunoplex Panel

University of Washington Department of Laboratory Medicine University of Washington
United States
1464
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoXpanded Panel

GeneDx
United States
11818
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Very Early Onset Inflammatory Bowel Disease Genomic 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 31

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.

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