Clinical and research tests for C0001733 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
C3 Glomerularopathy Genetic Panel (6 genes) (2 Day STAT TAT) Machaon Diagnostics United States	3	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Complement factor I deficiency, 610984, Autosomal recessive; CFID (Immunodeficiency with factor I anomaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement factor I deficiency, 610984, Autosomal recessive; CFID (Immunodeficiency with factor I anomaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement factor I deficiency, 610984, Autosomal recessive; CFID (Immunodeficiency with factor I anomaly) (CFI 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
Complement factor I deficiency, 610984, Autosomal recessive; CFID (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
CFI - dense deposit disease Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	1	C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Labcorp Genetics (formerly Invitae) LabCorp United States	603	446	D Deletion/duplication analysis
Fibrinogen gene analysis (FGA, FGB & FGG) Molecular Haemostasis & Thrombosis Synnovis Analytics LLP - Guy's and St. Thomas' NHS Foundation Trust United Kingdom	3	3	C Sequence analysis of the entire coding region
Afibrinogenemia familiar Bioarray Spain	1	2	C Sequence analysis of the entire coding region
Congenital Afibrinogenemia Genetiks Genetic Diagnosis Center Genetic Diseases Evaluation Center Turkey	1	1	C Sequence analysis of the entire coding region
Coagulation Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States	25	20	D Deletion/duplication analysis S Mutation scanning of the entire coding region
Atypical Hemolytic Uremic Syndrome panel Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates	9	10	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
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	473	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Thrombosis, Platelet Disorder, and Coagulation Deficiency NGS Panel Fulgent Genetics United States	146	82	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
Afibrinogenemia NGS Panel Fulgent Genetics United States	13	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FGB Single Gene Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Complement factor I deficiency Bioarray Spain	1	1	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.