Options according to your patient’s needs
Helping you in your clinical decision-making
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Single Gene Analysis includes a set of diagnostic tests for a concrete genetic disease associated to mutations in one specific gene or genomic region.
Gene sequencing
MLPA (Multiple Ligation-dependent Probe Amplification)
Expansions
Target mutation
Chromosomal microarray analysis is the gold standard for the detection of deletions and duplications along the whole genome
A diagnostic test based on NGS of the complete coding region of all genes of the Human Genome. WES is the best option for non-specific genetic diagnosis
*TRIO analysis (father, mother and index patient) can improve the diagnostics yield allowing the identification of de novo variants for dominant disorders or compound heterozygotes for recessive conditions
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A diagnostic test based on NGS of multiple genes associated to a disease, condition, or phenotype. Precision Panel is the best option when a specific list of genes can be defined