Clinical and research tests for C2752039 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
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
Comprehensive Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	58	37	D Deletion/duplication analysis 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
Focus Thrombotic Microangiopathy NGS Panel Fulgent Genetics United States	40	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ATYPICAL HEMOLYTIC UREMIC SYNDROME Laboratorio de Genetica Clinica SL Spain	7	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Test for DGKE-Related Atypical Hemolytic Uremic Syndrome Secugen SL Spain	8	1	C Sequence analysis of the entire coding region
CFI Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	D Deletion/duplication analysis
CFI Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical hemolytic-uremic syndrome Institute of Human Genetics Cologne University Germany	9	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5129	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFI Sequencing Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States	1	1	C Sequence analysis of the entire coding region T Targeted variant analysis
Macular Degeneration NGS Panel Fulgent Genetics United States	53	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Atypical hemolytic-uremic syndrome 3 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CFI Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands	1	1	C Sequence analysis of the entire coding region
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome Secugen SL Spain	1	1	C Sequence analysis of the entire coding region
Test for CFI-Related Atypical Hemolytic-Uremic Syndrome Genome Diagnostics Laboratory Hospital For Sick Children Canada	1	1	C Sequence analysis of the entire coding region
Atypical hemolytic-uremic syndrome 3 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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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.