Clinical and research tests for 710 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
SERPING1 Gene Angioedema, hereditary NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning 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
CentoImmuno Panel Centogene AG - the Rare Disease Company Germany	323	329	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	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
Angioedema, hereditary, types I and II, 106100, Autosomal dominant; HAE1 (Hereditary angioedema) (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
Angioedema, hereditary, types I and II, 106100, Autosomal dominant; HAE1 (Hereditary angioedema) (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) (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
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	552	424	D Deletion/duplication analysis
Hereditary Angioedema via the SERPING1 /C1NH Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
C1NH (SERPING1) mutation analysis Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Primary Immunodeficiency Panel Baylor Genetics United States	1	463	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.