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Artículo

Pathogenic Variants and Clinical Outcomes in Korean Dilated Cardiomyopathy Patients: Insights From Next-Generation Sequencing.

Research record from JACC Asia, 2026-03-16. PMID 41837919.

Pruebas

Pharmacogenetic Tests

Pharmacogenetics (also called pharmacogenomics ) is the study of how your genes affect the way your body responds to certain medicines . Genes are parts of DNA in your cells that you inherit from your parents. You inherit two copies of each gene, one from each parent. Genes carry information that controls what you look like and how your body works.

For everyone & professionals

Pruebas

PTEN Genetic Test

A PTEN genetic test uses a sample of your blood or other body tissue to look for changes in a gene called PTEN . Changes in your genes are also called gene variants or mutations.

For everyone & professionals

Pruebas

SARS-CoV-2 RNA Detection

Molecular detection of SARS-CoV-2 RNA for COVID-19 diagnosis and screening.

For everyone & professionals

Glossary Term

Single Nucleotide Variant

A variation of a single nucleotide at a specific location of the genome due to base substitution, which is found at any frequency in the population.

Pcr Terms

Pruebas

Small-Colony Variant Pseudomonas aeruginosa Measurement

The determination of the amount of small-colony variant Pseudomonas aeruginosa present in a sample.

For professionals

Artículo

Spectrum of actionable genetic variants in acute myeloid leukaemia patients from Pakistan: a study based on next-generation sequencing.

Research record from Ecancermedicalscience, 2026-05-27. PMID 42428814.

Artículo

Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

Research record from J Neurol, 2026-07-20. PMID 42474733.

Pruebas

TP53 Genetic Test

A TP53 genetic test uses a sample of your blood, bone marrow, or tissue from a tumor to look for changes in the tumor protein 53 gene, or TP53 for short. Changes in your genes are also called gene variants or mutations.

For everyone & professionals

Artículo

Unclassified Inborn Errors of Immunity Patients without any Pathogenic Variant in Targeted Next-Generation Sequencing: Long-Term Follow-up and Whole Exome Sequencing Results.

Research record from J Clin Immunol, 2026-03-31. PMID 41917218.

Artículo

Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.

Research record from BMC Cardiovasc Disord, 2026-04-17. PMID 41998504.

Artículo

Use of Next-Generation Sequencing and Whole-Exome Sequencing in the Diagnosis of Adult-Onset Familial Intrahepatic Cholestasis: Challenges in Interpreting Variants of Uncertain Significance.

Research record from Diagnostics (Basel), 2026-07-25. PMID 42587573.

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