Clinical and research tests for C0009447 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 18 of 18

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
Early Onset IBD Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	163	110	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
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
Common Variable Immunodeficiency Syndrome (CVID): TNFRSF13B (TACI) (Known Mutation) Molecular Diagnostic Laboratory LabCorp United States	1	1	E Sequence analysis of select exons
Common Variable Immunodeficiency Syndrome (CVID): TNFRSF13B (TACI) (Full Gene Sequencing) Molecular Diagnostic Laboratory LabCorp United States	1	1	C Sequence analysis of the entire coding region
Monogenic Diabetes Panel Genetic Services Laboratory University of Chicago United States	14	69	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Antibody Deficiency NGS Panel Fulgent Genetics United States	102	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Severe Combined Immunodeficiency NGS Panel Fulgent Genetics United States	330	90	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PSD Single Gene Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRKCD Single Gene Fulgent Genetics United States	26	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRBA Single Gene Fulgent Genetics United States	45	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NFKB2 Single Gene Fulgent Genetics United States	29	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Common variable immunodeficiency Bioarray Spain	1	1	C Sequence analysis of the entire coding region
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States	33	30	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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.