/ Structures

Cytogenetics and Genomics Laboratory

O LCG-FMUC é um grupo dinâmico, multidisciplinar, empreendedor e dedicado, constituído por técnicos e docentes da FMUC. Estando inserido na UC, o LCG encontra-se envolvido em diversos projetos de investigação de diferentes áreas.

Websitehttps://www.uc.pt/fmuc/laboratorio-de-citogenetica-e-genomica/
E-mailcitogenetica@fmed.uc.pt

18 available services

Array-CGH

 The LCG has different array resolutions in order to identify Copy number variations (CNV) and detection of loss of heterozygosity. This diagnosis can be done on pre-natal and post-natal samples.
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Cryopreservation

 Cryopreservation in liquid nitrogen
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Developmental Disorders

 LCG provides solutions in Genomics, Conventional and/or Molecular Cytogenetics and Molecular Biology for genetic studies of Developmental Disorders.
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DNA extration

 DNA extration from different biological samples.
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Formação avançada em Array

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Genetical family story

 These studies are carried out taking into account the alterations present in the index case, using the most appropriate techniques in the set of existing LCG techniques to characterize the alterations.
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High resolution banding karyotype

 The study of the constitutional karyotype makes it possible to observe the entire genome, being able to identify both balanced and unbalanced structural chromosomal alterations, as well as alterations in the number of chromosomes and mosaics.
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Infertility

 Infertility test by Cytogentics and Molecular Biology techniques.
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Lymphocyte immortalization

 EBV based lymphocyte immortalization
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Methylation-specific MLPA (MS-MLPA)

 MS-MLPA can be used for the analysis of both methylation as well as copy number changes of syndromic related regions.
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Molecular Cytogenetics - Fluorescence In Situ Hybridization (FISH)

 Molecular cytogenetics (FISH) allows a more detailed study of specific chromosomal regions, increasing the resolving power of conventional cytogenetics. The LCG provides an extensive library of FISH probes.
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Molecular Rapid Aneuploidy

 The rapid screening of the most common aneuploidies allows, in a short period of time (24h-72h), to evaluate the ploidy (number) of chromosomes 13, 18 and 21 and of the sex chromosomes X and Y.
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Multiplex Ligation-dependent Probe Amplification - MLPA

 MLPA can be used for the analysis of copy number changes in DNA of syndromic related regions
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Neurodevelopmental disorder etiology by array-CGH

 Array-CHG
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Pre-natal non invasive test (NIPT)

 Non invasive pre-natal test (NIPT)
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Prenatal Diagnosis

 The LCG performs a wide variety of exams in Prenatal. The fetal genome can be analyzed more widely, by molecular karyotype (aCGH) and constitutional karyotyope, More specific techniques like FISH, MLPA and MS-MLPA can also be performed whenever necessary.
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Tissue Culture

 Tissue culture of different tissues.
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Training in Cytogenetics and Genomics

 Annual 5-day course divided into theoretical, theoretical-practical sessions and 6 practical workshops, with the aim of addressing the evolution from cytogenetics to genomics, both in pre- and postnatal diagnosis and in research and forensic medicine
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