Clinical and research tests for 300853 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 49

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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 Congenital Disorders of Glycosylation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
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
Familial Hemophagocytic Lymphohistiocytosis (FHL) Panel PreventionGenetics, part of Exact Sciences United States	29	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (sequence analysis of MAGT1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Hemophagocytic lymphohistiocytosis panel. NGS panel of 15 genes. Genologica Medica Spain	19	15	C Sequence analysis of the entire coding region
Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain	194	122	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Hypomagnesemia panel. NGS panel of 19 genes. Genologica Medica Spain	27	19	C Sequence analysis of the entire coding region
Panel of congenital disorders of glycosylation. NGS panel of 47 genes. Genologica Medica Spain	55	47	C Sequence analysis of the entire coding region
Hemophagocytic Lymphohistiocytosis (HLH) Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	16	14	C Sequence analysis of the entire coding region
Severe-Chronic EBV (CAEBV) Immunodeficiency Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	70	44	C Sequence analysis of the entire coding region
Comprehensive Metabolism NGS Panel Fulgent Genetics United States	602	356	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia (MAGT1 Single Gene Test) Fulgent Genetics United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomagnesemia NGS Panel Fulgent Genetics United States	121	23	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	473	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
Combined immunodeficiencies Panel CeGaT GmbH Germany	23	60	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 49

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.