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Accredited medical laboratory according to ISO:15189 standard with 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 works.

The laboratory cooperates with various partners both in Latvia (Genome database of Latvian population, Riga Eastern Clinical University Hospital, Children Clinical University Hospital etc.) and abroad (Institute of Molecular Genetics of Russian Academy of Science; Academy of Medical Sciences of Ukraine, Institute of Hereditary Pathology etc.)


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.



  • DNA isolation from different biological materials
  • Quantitative and qualitative measurements of DNA quality
  • Sequencing service:
    • Direct sequencing
    • Fragment analysis / microsatellite analyses
  • Genotyping
    • Direct sequencing
    • 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)


  • ERDF project No. 2014/0048/2DP/ Development of a new method for the detection of genetic variations significant in reproduction. Project manager: I. Kempa. Duration: 2014-2015
  • ERDF project No KC-PI-2017/24 Test for detection of infertility genetic causes. Project manager: L. Gailīte. Duration: 2017-2020
Grants by the Latvian Council of Science & Fundamental and Applied Research Projects


  • Dangouloff T., Vrscaj E., Servais L., Osredkar D., The SMA NBS World study group (including Kreile M.). "Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go." Neuromuscular Disorders. 2021, 31(6):574-582.
  • Moisejevs G., Bormane E., Trumpika D., Baufale R., Busmane I., Voicehovska J., Grigane A., Suba O., Silova A., Skesters A., Lejnieks A., Gailite L. "Glutathione reductase is associated with the clinical outcome of septic shock in the patients treated using continuous veno-venous haemofiltration." Medicina (Lithuania). 2021, 57(7):689.
  • Puzuka A., Alksere B., Gailite L., Erenpreiss J. "Idiopathic Infertility as a Feature of Genome Instability." Life. 2021, 11(7):628
  • Millere E., Rots D., Simren J., Ashton N.J. Kupats E., Micule I., Priedite V., Kurjane N., Blennow K., Gailite L., Zetterberg H., Kenina V. "Plasma neurofilament light chain as a potential biomarker in Charcot-Marie-Tooth disease." European Journal of Neurology. 2021, 28(3):974-981.
  • Millere E., Rots D., Glazere I., Taurina G., Kurjane N., Priedite V., Gailite L., Blennow K., Zetterberg H., Kenina V. "Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy." Front. Neurol. 2021,
  • Kovale S., Terauda R., Millere E., Taurina G., Murmane D., Isakova J., Kenina V., Gailite L. "GJB1 Gene Analysis in Two Extended Families with X-Linked Charcot-Marie-Tooth Disease." Case series – General Neurology. 2021, 13:422-428.
  • Lidaka L., Berkere L., Lazdane G., Dzivite-Krisane I., Kivite-Yrtane A., Gailite L. "Non-Classical Congenital Adrenal Hyperplasia-Causing Alleles in Adolescent Girls with PCOS and in Risk Group for PCOS Development." Diagnostics. 2021, 11(6):980
  • Lidaka L., Grasmane A., Lazdane G., Dzivite-Krisane I., Gailite L., Viberga I. "Can a mother’s polycystic ovary syndrome (PCOS)-related symptoms be used to predict the future clinical profile of PCOS in her adolescent daughter? A pilot study." The European Journal of Contraception and Reproductive Health Care. 2021, 26(1):17-22.
  • Kreile M., Lubina O., Ozola-Zalite I., Lugovska R., Pronina N., Steran O., Vevere P., Konika M., Malniece I., Gailite L. "Phenylketonuria in the Latvian population: Molecular basis, phenylanlanyne levels, and patient compliance." Molecular Genetics and Metabolism Reports. 2020, 25:100671. DOI: 10.1016/j.ymgmr.2020.100671
  • Millere E., Gribuste L., Kazaine I., Strautmanis J., Gailite L., Kenina V. "Clinical and neurophysuological spectrum of polyneuropathies in children." Neulogia i Neurochirurgia Polska. 2020, 54(5):466-470. 10.5603/PJNNS.a2020.0068
  • Volozonoka L., Gailite L., Perminov D., Kornejeva L., Fodina V., Kempa I., Miskova A. "Reducing misdiagnosis caused by maternal cell contamination in genetic testing for early pregnancy loss." Systems Biology in Reproductive Medicine 2020, 66(6):410-420. DOI: 10.1080/19396368.2020.1827081
  • Millere E., Rots D., Simren J., Ashton NJ, Kupats E., Micule I., Priedite V., Kurjane N., Blennow K., Gailite L., Zetterberg H., Kenina V. European Journal of Neurology, 2020, doi:10.1111/ene.14689
  • Rudaka I., Rots, D., Uzars, A., Kalejs, O., Gailite, L. "Association between 4q25 variants, risk of atrial fibrillation and echocardiographic parameters." Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact and Applied Sciences, 2020, 74(1):1-6. doi: 10.2478/prolas-2020-0001
  • Makhuh, H., Hayboniuk, I., Zarina, a., Semeriak, O.M., Gailite, L. "Mutations in the ATP7B gene in Ukranian patients with high risk of Wilson disease." Cyology and Genetics, 2020 54(4):324-332. doi: 10.10.3103/S009545272004009X
  • Gailite, L., Valenzuela-Palomo, A., Sanoguera-Miralles, L., Rots, D., Kreile M., Velasco, E.A. (2020) "UGT1A1 Variants c.864+5G>T and c.996+2_996+5del of a Crigler-Najjar Patient Induce Aberrant Splicing in Minigene Assays." Frontiers in Genetics, 11(169) doi: 10.3389/fgene.2020.00169
  • Lidaka, L., Grasmane, A., Lazdane, G., Dzivite-Krisane, I., Gailite, L., Viberga, I. "Can a mother’s polycystic ovary syndrome (PCOS)-related symptoms be used to predict the future clinical profile of PCOS in her adolescent daughter? A pilot study." European Journal of Contraception and reproductive health Care, 2020. doi. 10.1080/13625187.2020.1795118
  • Malniece, I., Grasmane, A., Inashkina, I., Stavusis, J., Kreile, M., Miklasevics, E., Gailite, L. (2020) "The fetal phenotype of Noonan sydnrome caused by severe, cancer-related PTPN11 variants." American Journal of Case Reports 21”: e922468-1-e922468-6. doi: 10.12659/AJCR.922468
  • Volozonoka, L., Rots, D., Kempa, I., Kornete, A., Rezeberga, D., Gailite, L., Miskova A. "Genetic landscape of preterm birth duie to cervical insufficiency: comprehensive analysis and patient next generation sequencing data interpretation." Plos One, 2020, 15(3), e0230771, doi: 10.10.1016/j.bpobgyn.2018.03.007
  • Nokalna, I., Kreile, M., Butane, D., Kovalova, Z., Daneberga, Z., Miklasevics, E., Gardovska, D., Gailite, L. (2020) "X-linked lymphoproliferative disease in Latvia: a report of two clinically distinct cases." Case Reports in Medicine 2020, article number: 7108657. doi: 10.1155/2020/7108657
  • Kreile M, Rots D, Piekuse L, Cebura E, Grutupa M, Kovalova Z, Lace B. Lack of association between polymorphisms in genes MTHFR and MDR1 with risk of childhood acute lymphoblastic leukemia. Asian Pac J Cancer Prev. 2014;15(22):9707-11.
  • Piekuse L, Kreile M, Zarina A, Steinberga Z, Sondore V, Keiss J, Lace B, Krumina A. Association between inherited monogenic liver disorders and chronic hepatitis C. World J Hepatol. 2014 Feb 27;6(2):92-7. doi: 10.4254/wjh.v6.i2.92.
  • Piekuse L., Lace B, Kreile M, Sadovska L, Kempa I, Daneberga Z, Micule I, Sondore V, Keiss J, Krumina A. Impact of the genes UGT1A1, GSTT1, GSTM1, GSTA1, GSTP1 and NAT2 on acute alcohol-toxic hepatitis. Central European Journal of biology, Vol 9 (2), February 2014, pp 125-130. doi: 10.2478/s11535-013-0249-y
  • Kevere L, Purvina S, Bauze D, Zeibarts M, Andrezina R, Piekuse L, Brekis E, Purvins I. Homocysteine and MTHFR C677T polymorphism in children and adolescents with psychotic and mood disorders. Nord J Psychiatry. 2014 Feb; 68(2):129-36. doi: 10.3109/08039488.2013.782066. Epub 2013 Apr 16. PMID: 23586533
  • Kempa I, Ambrozaitytė L, Stavusis J, Akota I, Barkane B, Krumina A, Matulevičienė A, Utkus A, Kučinskas V, Lace B. Association of BMP4 polymorphisms with non-syndromic cleft lip with or without cleft palate and isolated cleft palate in Latvian and Lithuanian populations. Stomatologija. 2014;16(3):94-101.
  • Piekuse, L., Kreile, M., Zarina, A., Shteinberga, Z., Sondore, V., Keiss, J., Lace, B., Krumina, A. Association between inherited monogenic liver disorders and chronic hepatitis C. World Journal of Hepatology (In press).
  • Piekuse, L., Lace, B., Kreile, M., Sadovska, L., Kempa, I., Daneberga, Z., Micule, I., Sondore, V., Keiss, J., Krumina, A. Impact of the genes UGT1A1, GSTT1, GSTM1, GSTA1, GSTP1 and NAT2 on acute alcohol-toxic hepatitis. Central European Journal of biology, Vol 9 (2), February 2014, pp 125-130. doi: 10.2478/s11535-013-0249-y
  • Kevere, L., Purvina, S., Bauze, D., Zeibarts, M., Andrezina, R., Piekuse, L., Brekis, E., Purvins, I. Homocysteine and MTHFR C677T polymorphism in children and adolescents with psychotic and mood disorders. Nord J Psychiatry. 2014 Feb;68(2):129-36. doi: 10.3109/08039488.2013.782066. Epub 2013 Apr 16. PMID: 23586533\
  • Bauze, D., Piekuse, L., Kevere, L., Kronberga, Z., Rizevs, A., Vaivade, I., Viksne, K., Andrezina, R., Lace, B. Association a Single Nucleotide Polymorphism in Chromosome 11 with Autism Spectrum Disorder in a North-Eastern European Population. Proceedings of the Latvian Academy of Science, 2013 (In press).
  • Berza, N., Zodzika, J., Kroica, J., Reinis, A., Skadins, I., Piekuse, L., Melngaile, O., Pundure,R., Lukojanova, I., Vasina, O. Association between Lactobacillus species and bacterial vaginosis-related bacteria, and bacterial vaginosis scores in small population of pregnant Latvian women. International Journal of Collaborative Research on Internal Medicine & Public Health, 2013, Vol. 5 No. 5, pp255-264.
  • Skesters, A. P., Silova, A. A., Spadiene, A. G., Savickiene, N. Z., Rusakova, N. J., Larmane, L. T., Moisejevs, G. O. Redox status blood of patients with new-found type-2 diabetes mellitus before and after duration of administration of natural antioxidants. Prenosology and Healthy Lifestyle, 1(12), 2013, 76-79 pp.; (in Russian)
  • Kevere L., Purvina S., Bauze D., Zeibarts M., Andrezina R., Rizevs A., Jelisejevs S., Piekuse L., Kreile M., Purvins I.: Elevated serum levels of homocysteinedisord as an early prognostic factor of psychiatric disorders in children and adolescents, Schizophr Res Treatment. 2012(2012:373261), pp., 2012, doi:10.1155/2012/373261. Epub, 2012, Oct 2.
  • Sadovska L., Piekuse L., Kreile M., Keiss J., Krumina A.: CCR5-32 and UGT1A1 28-mutations in HCV patients, Immunology. Vol. 137 Suppl. 1, pp. 497-497, 2012
  • Letra A., Fakhouri W., Fonseca R., Menezes R., Kempa I., Prasad J., McHenry T., Lidral A., Moreno L., Murray J., Daack-Hirsch S., Marazita M., Castilla E., Lace B., Orioli I., Granjeiro J., Schutte B., Vieira A.: Interaction between IRF6 and TGFA Genes Contribute to the Risk of Non syndromic Cleft Lip/Palate, PLoS One. 7(9), 2012, doi:10.1371/journal.pone.0045441
  • Lace B., Kempa I., Klovins J., Stavusis J., Krumina A., Akota I., Barkane B., Vieira A., Nagle E., Grinfelde I., Maulina I.: BCL3 gene role in facial morphology, Birth Defects Res. Part A-Clin. Mol. Teratol. Vol. 94(11), pp. 918-924, 2012
  • Kreile M., Daneberga Z., Ziemele I., Eglite I., Grinfelde I., Sviridova D., Krumina Z.: Shwachman diamond syndrome mimics disorder of galactose metabolisms, J. Inherit. Metab. Dis.. Vol. 35 Suppl. 1, pp. S166-S166, 2012
  • Makrecka, M., Kuka, J., Liepinsh, E., Dambrova, M.: T Nikopensius, T., Kempa, I., Ambrozaityte, L., Jagomagi, T., Saag, M., Matuleviciene, A., Utkus, A., Krjutskov, K., Tammekivi, V., Piekuse, L., Akota, I., Barkane, B., Krumina, A., Klovins, J., Lace, B., Kucinskas, V., Metspalu, A.: Variation in FGF1, FOXE1, and TIMP2 genes is associated with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. Part A-Clin. Mol. Teratol. Vol. 91, pp. 218–225, 2011
  • Lace, B., Kempa, I., Piekuse, L., Grinfelde, I., Klovins, J., Pliss, L., Krumina, A., Vieira, A.R.: Association studies of candidate genes and cleft lip and palate taking into consideration geographical origin. European Journal of Oral Sciences, Vol. 119, pp. 413–417, 2011
  • Puzuka, A., Pronina, N, Grinfelde, I, Erenpreiss, J, Lejing, V, Bars, J, Pliss, L, Pelnena, I, Baumanis, V, Krumina, A.: Y chromosome-a tool in infertility studies of Latvian population. Russ. J. Genet. Vol. 47, pp. 347–353, 2011



Diagnostic Services


NameTime (working days)*
DNA isolation from peripheral blood with EDTA anticoagulant10
DNA analyses
Cystic fibrosis – Detection of dF508 and dele 2,3 in CFTR gene10
Cystic fibrosis – Sequencing of the coding part of the CFTR gene60
Male infertility (azoospermia) – Analysis of AZFa, AZFb and AZFc regions20
Inherited thrombophilia – Detection of (FV) Leiden G1691A and (FII) Prothrombin G20210A20
Risk factors for thrombophilia – Detection of C677T and A1298C in MTHFR gene20
Myeloproliferative neoplasia – Detection of p.V617F variant in JAK2 gene60

For other genetic testing options, contact mgzlatrsu[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.

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