Molecular Genetic Diagnosis

We apply the best genetic technology for precision diagnosis, from cutting-edge technology such as digital PCR for studying point mutations, to array techniques optimised for diagnosis of constitutional diseases and traditional techniques such as sequencing, for the following Medical Specialisations:

  • Cardiology
  • Oncology
  • Oncohaemotology
  • Dermatology
  • Digestive
  • Endocrinology
  • Gynaecology and human reproduction
  • Haematology
  • Immunology
  • Internal Medicine
  • Nephrology
  • Neonatology
  • Pulmonology
  • Neuropediatrics
  • Ophthalmology
  • Otorhinolaryngology
  • Paediatrics
  • Rheumatology
  • Traumatology
  • Urology
  • Common Studies

Services

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SG Arrays

Since 2010, arrays have been the first option for diagnosing constitutional diseases that include phenotypes such as learning disabilities, autism or congenital malformations.

This is a technique that allows us to determine gains and losses of pathogenic genetic material in high definition. The benefits in terms of genetic safety, sensitivity and reproducibility of the analysis through molecular karyotype are based on the high resolution for detecting genetic alterations.

The efficiency of diagnosis in studies of this kind is increased by 15-20% compared to conventional karyotypes and increases the resolution over 100 times, including the detection of cryptic unbalanced translocations, the loss of heterozygosity, and can detect mosaicisim with a limit of 20%. Even though the overall cost of a molecular or genomic karyotype is higher than that of the convientional karyotype technique, arrays are used as the first option for analysis in prenatal studies.

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Sanger Sequencing Service

Sistemas Genómicos has a DNA sequencing service based on the Sanger method, in operation since it was created in 1998 with certification from the Spanish Association for Standardization and Certification (AENOR) for ISO 9001.

This service offers DNA sequencing from PCR or cloned products, editing and joining sequences, primer walking projects, sequencing primer design, PCR product purification and fragment analysis.

Accreditations

 

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Personalised Services

We provide personalised analytical solutions for our specialisation areas.