Scientific Laboratory of Molecular Genetics

Summary of scientific activities on the RSU Research Portal

Accredited medical laboratory according to ISO:15189 standards with an LATAK-633-2020 accreditation certificate, within the framework of which part of its examinations are accredited.

The Scientific Laboratory of Molecular Genetics conducts research on the genetic causes of diseases and their characteristics, especially in the field of rare diseases, the use of biomarkers in diagnostics, and prognosis of the course of diseases.

The laboratory provides students, residents, and doctoral students with the opportunity to develop scientific research.

The laboratory cooperates with various partners both in Latvia (the genome database of the Latvian population, Riga Eastern Clinical University Hospital, the Children's Clinical University Hospital etc.) and abroad (the Academy of Medical Sciences of Ukraine, the Institute of Hereditary Pathology and more).

Research

Research Areas

• Rare monogenic disorders
  • Cystic fibrosis (mucoviscidosis)
  • Wilson disease
  • Apha-1-antitrypsin deficiency
  • Kennedy disease
  • Ornithine transcarbamilase deficit
  • Crigler0Najjar syndrom etc.

• Monogenic pathologies
  • Gilbert syndrome
  • HFE-related hereditary haemochromatosis
• Multifactorial pathologies
  • Infertility
  • Myeloproliferative disorders (JAK2, CALR, MPL gene allelic variants)

Research is conducted with permission from the Central Medical Ethics Committee.

Services

Technologies

• DNA isolation from different biological materials
• Quantitative and qualitative measurements of DNA quality
• Sequencing service:
  • Direct sequencing
  • Fragment analysis / microsatellite analyses
• Genotyping
  • Direct sequencing
  • PCR-RFLP, ARMS-PCR
  • qPCR, HRM, TaqMan

Pathogenic varint detection in following disorders

• Cystic fibrosis (most frequent causative variant and whole CFTR gene sequencing)
• Wilson's disease (most frequent causative variant and whole ATP7B gene sequencing)
• Myeloproliferative neoplasia (JAK2 gene V617F variant, CALR gene  9th exon ind/del analysis)
• Inherited thrombophilia (F5 gene G1691A variant, F2 (protrombine) gene G20210A variant, MTHFR gene C677T and A1298C variant analysis)
• Male infertility (Y chromosome microdeletion analysis)

Equipment

Diagnostic Services

Analyses

Name	Time (working days)*
DNA isolation from peripheral blood with EDTA anticoagulant	10
DNA analyses
Cystic fibrosis – Detection of dF508 and dele 2,3 in CFTR gene	10
Cystic fibrosis – Sequencing of the coding part of the CFTR gene	60
Male infertility (azoospermia) – Analysis of AZFa, AZFb and AZFc regions	20
Inherited thrombophilia – Detection of (FV) Leiden G1691A and (FII) Prothrombin G20210A	20
Risk factors for thrombophilia – Detection of C677T and A1298C in MTHFR gene	20
Myeloproliferative neoplasia – Detection of p.V617F variant in JAK2 gene	60

For other genetic testing options, contact mgzlrsu[pnkts]lv

* Times apply only to paid analyses / times for analyses performed in the framework of a scientific cooperation are longer. All deadlines can be extended due to the current state of emergency.