Clinical and research tests for C0085110 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Adenosine deaminase enzymatic activity Purine Metabolic and Immunodeficiency Lab Duke University Medical Center United States	3	1	A Analyte E Enzyme assay
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	C Sequence analysis of the entire coding region
SCID Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	65	50	C Sequence analysis of the entire coding region
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
HLH Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	23	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	7	1	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	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	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	1	2	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	1	3	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	1	3	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	1	9	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	1	3	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	1	8	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	1	1	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	1	2	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	1	1	C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region

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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.