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Results: 1 to 20 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

SERPING1 Gene Angioedema, hereditary NGS Genetic DNA Test

DNA Labs India
India
11
  • S Mutation scanning of the entire coding region

SERPING1 - MLPA

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis

SERPING1 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoICU Panel

Centogene AG - the Rare Disease Company
Germany
829848
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
754562
  • D Deletion/duplication analysis

Invitae Complement Deficiency Disorders Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
3522
  • D Deletion/duplication analysis

Invitae Hereditary Angioedema Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
54
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • 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
11
  • C Sequence analysis of the entire coding region

Connective Tissue Disorders Panel

PreventionGenetics, part of Exact Sciences
United States
166101
  • 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
525338
  • C Sequence analysis of the entire coding region

Invitae Primary Immunodeficiency Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
552424
  • D Deletion/duplication analysis

Hereditary Angioedema via the SERPING1 /C1NH Gene

PreventionGenetics, part of Exact Sciences
United States
11
  • 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
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Primary Immunodeficiency Panel

Baylor Genetics
United States
1463
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 55

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.