Clinical and research tests for C3809523 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Expanded Renal Disease Panel Invitae United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFI - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Macular Dystrophy Panel Invitae United States	66	36	D Deletion/duplication analysis
Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States	755	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
Invitae Atypical Hemolytic Uremic Syndrome and Thrombotic Microangiopathies Panel Invitae United States	25	13	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Macular degeneration, age-related, 13, susceptibility to, 615439, Autosomal dominant; ARMD13 (Immunodeficiency with factor I anomaly) (CFI 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
Macular degeneration, age-related, 13, susceptibility to, 615439, Autosomal dominant; ARMD13 (Immunodeficiency with factor I anomaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
CFI - age-related macular degeneration Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFI - basal laminar drusen Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
CFI - complement-mediated eye disease Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
panel Complement-Mediated Eye Disease (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	4	C Sequence analysis of the entire coding region
panel Age-related Macular Degeneration (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	4	C Sequence analysis of the entire coding region
panel Basal Laminar Drusen (CFH, CFI, CFB, C3) Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	4	4	C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	C Sequence analysis of the entire coding region
Hemolytic uremic syndrome panel. 9-gene NGS panel. Genologica Medica Spain	19	9	C Sequence analysis of the entire coding region
Complement Deficiency panel Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	28	33	C Sequence analysis of the entire coding region
Complement Factor I Deficiency (CFI Single Gene Test) Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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