Clinical and research tests for C5231393 - 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
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
ALPS Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	34	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MAGT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Hereditary Lymphoma Panel Invitae United States	85	43	D Deletion/duplication analysis
Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States	253	189	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States	241	157	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Invitae United States	22	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel Invitae United States	37	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Autoinflammatory and Autoimmunity Syndromes Panel Invitae United States	223	154	D Deletion/duplication analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Invitae United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Invitae Congenital Disorders of Glycosylation Panel Invitae United States	203	152	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypomagnesemia Asper Biogene Asper Biogene LLC Estonia	27	18	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
Congenital Disorders of Glycolysation Asper Biogene Asper Biogene LLC Estonia	53	49	C Sequence analysis of the entire coding region

Results: 1 to 18 of 18

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