Clinical and research tests for 120790 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 19 of 19

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Complement component 4, partial deficiency of, 120790, Autosomal dominant (C1 inhibitor deficiency) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement component 4, partial deficiency of, 120790, Autosomal dominant (C1 inhibitor deficiency) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Complement component 4, partial deficiency of, 120790, Autosomal dominant (C1 inhibitor deficiency) (SERPING1 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
Complement component 4, partial deficiency of, 120790, Autosomal dominant (C1 inhibitor deficiency) (SERPING1 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
SERPING1 - MLPA Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis
SERPING1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inborn Errors of Immunity and Cytopenias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	754	562	D Deletion/duplication analysis
Invitae Complement Deficiency Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	35	22	D Deletion/duplication analysis
Invitae Hereditary Angioedema Panel Labcorp Genetics (formerly Invitae) LabCorp United States	5	4	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States	166	101	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	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
Plugin system clutter panel. NGS panel of 75 genes. Genologica Medica Spain	76	75	C Sequence analysis of the entire coding region
Complement component 4, partial deficiency of: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	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
Single gene testing SERPING1 CeGaT GmbH Germany	2	1	C Sequence analysis of the entire coding region
SERPING1 Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Clinical Exome Fulgent Genetics United States	5128	4672	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Complement component 4, partial deficiency of Praxis fuer Humangenetik Wien Austria	1	1	C Sequence analysis of the entire coding region

Results: 1 to 19 of 19

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