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Indicators

ETV6 Gene

This gene plays a regulatory role in transcription and in matrix metalloproteinase activity.

Indicators

Factor V Leiden

An abnormality that refers to mutation of factor V Leiden, which is a variant of human factor V. It results in thrombophilia, deep vein thrombosis, and a slightly increased risk of miscarriage.

Indicators

FANCG Gene

This gene is involved in the maintenance of genomic integrity and nuclear signal transduction. Allelic variants of the gene are involved in Fanconi syndrome.

Article

Flow cytometry-based detection of functional CCR5 variants: A scalable screening approach for HIV-resistant cord blood stem cells.

Research record from Transfusion, 2026-04-08. PMID 41952359.

Indicators

A tetrameric complex of 2 molecules of hemoglobin subunit alpha (encoded by either the HBA1 or HBA2 gene) and 2 molecules of a hemoglobin subunit beta variant where the glutamic acid residue at position 7 has been replaced by valine.

Article

Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still's disease using next-generation sequencing.

Research record from Immunol Res, 2026-10-01. PMID 42821198.

Glossary Term

Inclusivity

Validation evidence that an assay detects the range of variants, genotypes, or serotypes it claims to cover. For evolving targets such as influenza or SARS-CoV-2, inclusivity statements carry a validation date and should be checked against circulating variant lists at procurement time.

Performance Metrics

Tests

MTHFR Gene Test

An MTHFR gene test checks a sample of your blood for two very common changes in a gene called MTHFR . Changes in your genes are also called gene variants or mutations.

For everyone & professionals

Article

Multiplex RT-PCR-Based Sequencing Assay to Detect Kidney Cancer-Specific Splice Variants in Tumor Tissues and Plasma Cell-Free RNAs.

Research record from Mol Diagn Ther, 2026-07-06. PMID 42410176.

Article

Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.

Research record from Nat Genet, 2026-07-24. PMID 42498778.

Article

Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders.

Research record from Genes (Basel), 2026-05-31. PMID 42353803.

Article

Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.

Research record from BMC Cancer, 2026-07-17. PMID 42464142.

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Search IVDmap

ETV6 Gene

Factor V Leiden

FANCG Gene

Flow cytometry-based detection of functional CCR5 variants: A scalable screening approach for HIV-resistant cord blood stem cells.

Hemoglobin S

Identification of genetic variants associated with monogenic autoinflammatory diseases in patients with Still's disease using next-generation sequencing.

Inclusivity

MTHFR Gene Test

Multiplex RT-PCR-Based Sequencing Assay to Detect Kidney Cancer-Specific Splice Variants in Tumor Tissues and Plasma Cell-Free RNAs.

Nanoparticle-enriched mass spectrometry proteomics in British South Asians identifies links between genetic variants, plasma protein levels and disease risk.

Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders.

Next-generation sequencing-based characterization of BRCA1/2 variants across multiple tumor types in Vietnamese patients.