Clinical and research tests for 713 - 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
C1QB - 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
Invitae Complement Deficiency Disorders Panel Invitae United States	35	22	D Deletion/duplication analysis
C1q deficiency, 613652, Autosomal recessive (Immunodeficiency due to a classical component pathway complement deficiency) (C1QB 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
C1q deficiency, 613652, Autosomal recessive (Immunodeficiency due to a classical component pathway complement deficiency) (C1QB 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
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	527	338	C Sequence analysis of the entire coding region
Invitae Primary Immunodeficiency Panel Invitae United States	552	424	D Deletion/duplication analysis
Immunodeficiencies - complement deficiencies (WES based NGS panel of 33 genes, including analysis of CNVs) CGC Genetics Unilabs Portugal	1	33	C Sequence analysis of the entire coding region
Nephrology Panel CGC Genetics Unilabs Portugal	1	334	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
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	C Sequence analysis of the entire coding region
C1q deficiency: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	3	C Sequence analysis of the entire coding region
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
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
C1QB Institute for Human Genetics University Medical Center Freiburg Germany	1	1	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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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.