Clinical and research tests for 5897 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
RAG2 Gene Combined cellular and humoral immune defects with granulomas NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
RAG2 Gene Combined immunodeficiency, B cell-negative, T cell-negative, NK cell positive NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
RAG2 Gene Omenn syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
CentoScreen Centogene AG - the Rare Disease Company Germany	316	314	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RAG2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	754	562	D Deletion/duplication analysis
Hematologic Cancer Fusion Analysis Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States	1	147	R RNA analysis
Invitae Congenital Diarrhea Panel Invitae United States	121	83	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Expanded Carrier Screening Genome-Nilou Lab Iran	110	146	C Sequence analysis of the entire coding region
Combined cellular and humoral immune defects with granulomas, 233650, Autosomal recessive (Combined immunodeficiency with skin granulomas) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Combined cellular and humoral immune defects with granulomas, 233650, Autosomal recessive (Combined immunodeficiency with skin granulomas) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Severe combined immunodeficiency, B cell-negative, 601457, Autosomal recessive (Severe combined immunodeficiency due to complete RAG1/2 deficiency) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Severe combined immunodeficiency, B cell-negative, 601457, Autosomal recessive (Severe combined immunodeficiency due to complete RAG1/2 deficiency) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Omenn syndrome, 603554, Autosomal recessive (Omenn syndrome) (RAG2 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	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.