Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Quality in molecular biology testing for inherited thrombophilia disorders.

Seminars in thrombosis and hemostasis - 1 Sept 2012

Cooper Peter C, Goodeve Anne C, Beauchamp Nicholas J

Abstract excerpt

As the understanding of the genetic basis of the inherited thrombophilias has increased over recent years, their routine diagnostic genetic analysis has also matured. This review considers methods used to test for the factor V (F5) Leiden mutation and prothrombin 20210A (F2 c.*97G>A) allele, and analysis of the SERPINC1, PROC, and PROS1 genes in cases of antithrombin, protein C (PC), and protein S (PS)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to PROS1 gene
Share to Genetic Testing
Share to Molecular Biology

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Mutation

Share to Polymorphism, Genetic

Share to Quality Assurance, Health Care

Share to Quality Control

Share to Thrombophilia

Source

Identifiers

PMID: 22907670
DOI: 10.1055/s-0032-1321491

Genes

PROC
PROS1
SERPINC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Quality in molecular biology testing for inherited thrombophilia disorders.PMID 22907670Read ↗

Genetic testing for thrombophilia mutations.Semantic proximity Read ↗

Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort.Semantic proximity Read ↗

Molecular diagnostics in hemostatic disorders.Semantic proximity Read ↗

The molecular analysis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.Semantic proximity Read ↗

Thrombophilias--practical implications and testing caveats.Semantic proximity Read ↗

Genotype vs laboratory phenotype correlation of defects in natural anticoagulants in patients with venous thromboembolism.Semantic proximity Read ↗

Bridging laboratory assays, genetics, and clinical phenotypes in antithrombin deficiency: Rethinking the diagnostic paradigm.Semantic proximity Read ↗

The molecular analysis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia genetics laboratory network.Semantic proximity Read ↗

Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G >A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories.Semantic proximity Read ↗

Diagnosis of inherited bleeding disorders in the genomic era.Semantic proximity Read ↗

Advances in laboratory testing for thrombophilia.Semantic proximity Read ↗

Clinical and laboratory management of the prothrombin G20210A mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.