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Genetic diagnostics

Genetic diagnostics

Diagnostic test CE IVD

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Genetic analysis by NGS

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SERVICIO

Diagnostic Test
CE IVD

  • Genetic test alpha-1-antitrypsin disease: test for the detection of mutations in codons 264 (Pi * S) and 342 (Pi * Z) of the alpha antitrypsin (AAT) gene, through real-time PCR.
  • Celiac disease genetic test: RT-PCR detection of the most frequent alleles associated to development celiac disease (HLA-DQA1 * 05, HLA-DQA1 * 03, HLA-DQB1 * 03: 02 and HLA-DQB1 * 02).
  • Alzheimer's disease risk genetic test: RT-PCR detection of allelic forms (2, 3 and 4) of the APOE gene associated with Alzheimer's disease.

OUR SPECIALITY

Genetic analysis by NGS

We have the most comprehensive diagnostic panels on the market to offer the maximum diagnostic power based on NGS.

Scoliosis Susceptibility and disease progression

We evaluate by NGS several genetic variants associated to an increased susceptibility to develop Adolescent Idiopathic Scoliosis. A positive result allows confirmation of the genetic diagnosis and allows adequate decision-making in the clinical management of Adolescent Idiopathic Scoliosis.

Rare Muscular Dystrophies

We evaluate by NGS several pathogenic variants related with the development of rare muscular dystrophies. A positive result allows confirmation of the genetic diagnosis and allows adequate decision-making in the clinical management of the disease.

Exome Sequencing

Analysis of the DNA sequences of all the coding regions of the genome. We use Illumina NextSeq 500 ™ sequencing to performe Exome Sequencing analysis.

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