Clinical and research tests for 9636 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Autoinflammatory Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	182	117	C Sequence analysis of the entire coding region
ISG15 Gene Immunodeficiency type 38 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
ISG15 - 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 Invitae United States	755	562	D Deletion/duplication analysis
Mendelian Susceptibility to Mycobacterial Disease Panel PreventionGenetics, part of Exact Sciences United States	29	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Immunodeficiency 38, 616126, Autosomal recessive; IMD38 (Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency) (ISG15 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
Immunodeficiency 38, 616126, Autosomal recessive; IMD38 (Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency) (ISG15 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 Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	73	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Immune Disorders Panel CGC Genetics Unilabs Portugal	1	385	C Sequence analysis of the entire coding region
Immunodeficiencies and Immunologic Diseases Panel (Complete) Mendelics Brazil	1	397	C Sequence analysis of the entire coding region
AUTOINFLAMMATORY SYNDROMES EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	108	E Sequence analysis of select exons
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Basal Ganglia Calcification Dystonia (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States	5	63	C Sequence analysis of the entire coding region
ISG15 Institute for Human Genetics University Medical Center Freiburg Germany	1	1	C Sequence analysis of the entire coding region
Immunodeficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	69	60	C Sequence analysis of the entire coding region
Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States	1048	472	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Blueprint Genetics Finland	2	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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