Cardiovascular genetics – Health[in]Code

Exome sequencing is a powerful tool for diagnosing genetically inherited diseases that massively and simultaneously studies the protein-coding regions of our genes.

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FASTQ: includes preparing and sequencing the samples and obtaining raw sequencing data in fastq format. Deliverable: fastq files.

TAT [turnaround time]: 2 weeks

FASTQ + annotated variants: includes the bioinformatics processing of raw sequencing data to obtain a list of the annotated variants that have been detected in each sample. Deliverables: fastq files, tables of annotated variants, and coverage statistics.

TAT [turnaround time]: 3 weeks

FASTQ + annotated variants + interpretation: Once the annotated variant tables have been generated, the client can request the advanced clinical interpretation of variants located in genes associated with inherited heart disease (380 genes). Deliverables: fastq files, tables of annotated variants, coverage statistics, and complete clinical report for the 380 genes.

TAT [turnaround time]: 5 weeks

Whole-genome array

We offer array-based molecular cytogenetics services of CNVs to study unbalanced chromosomal aberrations whose size exceeds the capabilities of the used sequencing techniques at the genomic level.

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TAT [turnaround time]: 5 weeks

MLPA

The MLPA technique is used to detect copy number variants (insertions/deletions) that affect a part or a whole gene, which are frequent causes of certain pathologies with a genetic basis.

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Turnaround time depends on the selected kit or gene

Mitocondrial Genome

Diagnostic service based on the sequencing of the mitochondrial genome and characterization of variants (point mutations and CNVs) that may be a cause of cardiac, neurological or metabolic diseases.

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TAT [turnaround time]: 5 weeks