Clinical and research tests for C1835407 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Pharmacogenomics Profile + HLA AccessDx Lab LLC United States	71	37	D Deletion/duplication analysis T Targeted variant analysis
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
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 Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
HIV infection, susceptibility/resistance to (Response to antiviral treatment in hepatitis C) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hepatitis C virus infection, response to therapy of, 609532 (Response to antiviral treatment in hepatitis C) (IFNL3 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
HIV infection, susceptibility/resistance to (Response to antiviral treatment in hepatitis C) (CCR5 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
Hepatitis C virus, resistance to, 609532 (Response to antiviral treatment in hepatitis C) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hepatitis C virus, response to therapy of, 609532 (Response to antiviral treatment in hepatitis C) (IFNG 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
Hepatitic C virus, susceptibility to, 609532 (Response to antiviral treatment in hepatitis C) (PTPRC 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
Hepatitis C virus, resistance to, 609532 (Response to antiviral treatment in hepatitis C) (CCR5 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 (SCID) Panel PreventionGenetics, part of Exact Sciences United States	21	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
IL28B (IFNL3) Genotyping IU Genetic Testing Laboratories Indiana University School of Medicine United States	1	1	T Targeted variant analysis
Primary Antibody Deficiency Panel PreventionGenetics, part of Exact Sciences United States	50	46	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	177	130	D Deletion/duplication analysis
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	552	424	D Deletion/duplication analysis
Aplastic Anemia Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States	64	39	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

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