Clinical and research tests for 186711 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 52

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Bcell/Antibody Deficiency GenePanel Mayo Clinic Laboratories Mayo Clinic United States	79	61	C Sequence analysis of the entire coding region
EBV/Lymphoproliferation GenePanel Mayo Clinic Laboratories Mayo Clinic United States	35	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Viral Susceptibility Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	35	30	D Deletion/duplication analysis 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
CD27 Gene Lymphoproliferative syndrome type 2 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Hemophagocytic Lymphohistiocytosis (HLH) Extended Genetic Panel (41 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	41	E Sequence analysis of select exons
Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT) Machaon Diagnostics United States	7	32	E Sequence analysis of select exons
CD27 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Hereditary Lymphoma Panel Labcorp Genetics (formerly Invitae) LabCorp United States	85	43	D Deletion/duplication analysis
Lymphoproliferative syndrome 2, 615122, Autosomal recessive; LPFS2 (Autosomal recessive lymphoproliferative disease) (CD27 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
Lymphoproliferative syndrome 2, 615122, Autosomal recessive; LPFS2 (Autosomal recessive lymphoproliferative disease) (CD27 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
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	37	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	226	154	D Deletion/duplication analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	186	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Invitae Agammaglobulinemia Panel Labcorp Genetics (formerly Invitae) LabCorp United States	39	36	D Deletion/duplication analysis
Invitae Common Variable Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	49	36	D Deletion/duplication analysis
Hereditary Lymphoid/Immunodeficiency Predisposition Panel Genetic Services Laboratory University of Chicago United States	27	66	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 3

Results: 1 to 20 of 52

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.