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Glossary Term

Copy Number Polymorphism

Variation in the number of copies of a particular sequence within the genetic material of an individual. Large-scale copy number polymorphisms are common and widely distributed in the human genome.

Pcr Terms

Artículo

Direct quantitative PCR detects genetic biomarkers of antileishmanial drug resistance in clinical samples from dogs with leishmaniosis.

Research record from BMC Vet Res, 2026-07-07. PMID 42410421.

Glossary Term

DNA

A long linear double-stranded polymer formed from nucleotides attached to a deoxyribose backbone and found in the nucleus of a cell; associated with the transmission of genetic information.

Pcr Terms

Artículo

Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies.

Research record from Hum Mol Genet, 2026-10-01. PMID 42900767.

Partner

Elta 90 Medical Genetics

GeneProof lists Elta 90 Medical Genetics in its distributor directory for Georgia.

Glossary Term

Epigenetic Process

Changes in the regulation of the expression of gene activity without alteration of genetic structure.

Pcr Terms

Artículo

From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases.

Research record from Genes (Basel), 2026-03-15. PMID 41898852.

Pruebas

A galactosemia test is a blood test given to newborns to check for a rare genetic metabolic disorder called galactosemia. Metabolic disorders affect metabolism, the process your body uses to make energy from the food you eat. Galactosemia can be inherited (passed down through families), but to have the condition, your baby has to receive the gene from both parents. 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.

For everyone & professionals

Artículo

Genetic and Clinical Features in TP53-Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on Next-Generation Sequencing Data.

Research record from Cancer Rep (Hoboken), 2026-06-01. PMID 42213496.

Partner

Genetic Signatures

Genetic Signatures names its distributor per country on a public distributors page, reached from a “Contact a Distributor” heading.

Artículo

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Research record from Clin Genet, 2026-09-15. PMID 42742065.

Artículo

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease.

Research record from PLoS One, 2026-07-09. PMID 42424361.

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Copy Number Polymorphism

Direct quantitative PCR detects genetic biomarkers of antileishmanial drug resistance in clinical samples from dogs with leishmaniosis.

DNA

Droplet digital PCR as a first-line detection tool in the genetic diagnosis of vascular anomalies.

Elta 90 Medical Genetics

Epigenetic Process

From Genomic Diagnosis to Personalized RNA Medicine: Advances in Next-Generation Sequencing and N-of-1 Antisense Oligonucleotide Therapies for Rare Genetic Diseases.

Galactosemia Tests

Genetic and Clinical Features in TP53-Mutated Patients With Myelodysplastic Neoplasms: A Retrospective Study Based on Next-Generation Sequencing Data.

Genetic Signatures

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease.