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Results: 1 to 20 of 38

Tests names and labsConditionsGenes, analytes, and microbesMethods

Adenosine deaminase enzymatic activity

Purine Metabolic and Immunodeficiency Lab Duke University Medical Center
United States
31
  • A Analyte
  • E Enzyme assay

Early Onset IBD Gene Panel

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

SCID Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
6550
  • C Sequence analysis of the entire coding region

Bcell/Antibody Deficiency GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
7961
  • C Sequence analysis of the entire coding region

HLH Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
3523
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PGmax™ - Primary Immunodeficiency and Malignancy Predisposition Panel

PreventionGenetics, part of Exact Sciences
United States
71
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

PGmax™ - Inborn Errors of Immunity/Primary Immunodeficiency (PID) Panel

PreventionGenetics, part of Exact Sciences
United States
41
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Expanded Carrier Screening

Genome-Nilou Lab
Iran
110146
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID): Two-gene Profile (IL2RG, JAK3) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
12
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
13
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
13
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
19
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
13
  • C Sequence analysis of the entire coding region

Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing)

Molecular Diagnostic Laboratory LabCorp
United States
18
  • C Sequence analysis of the entire coding region

Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell positive, NK cell-positive

Department of Clinical Immunology Odense University Hospital
Denmark
11
  • C Sequence analysis of the entire coding region

Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Department of Clinical Immunology Odense University Hospital
Denmark
12
  • C Sequence analysis of the entire coding region

Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive

Department of Clinical Immunology Odense University Hospital
Denmark
11
  • C Sequence analysis of the entire coding region

Targeted Variant Analysis

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

Targeted Variant, Fetal Analysis

Integrated Genetics Westborough LabCorp
United States
292746
  • T Targeted variant analysis

GeneSeq PLUS

Integrated Genetics Westborough LabCorp
United States
330746
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 38

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.