Options according to your patient’s needs

Single Gene Analysis

Single Gene Analysis includes a set of diagnostic tests for a concrete genetic disease associated to mutations in one specific gene or genomic region.

Indications:

• Patient or relative with a concrete genetic disease associated to specific mutations in one gene or genomic region.
• A precise clinical diagnostic or orientation is required

Different technologies depending on the disease-causing mutation:

• Gene sequencing

• MLPA (Multiple Ligation-dependent Probe Amplification)

• Expansions

• Target mutation

Chromosomal Microarray

Chromosomal microarray analysis is the gold standard for the detection of deletions and duplications along the whole genome

Indications:

• High risk pregnancies for aneuploidies
• Suspicion of genomic imbalance
• Miscarriages
• Patient, fetus or stillbirth with multiple congenital anomalies
• Patient with a syndromic condition, developmental delay, intellectual impairment or autism spectrum disorder

WES (Whole Exome Sequencing)

The most comprehensive option

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

Indications:

• Patient with a complex or non-specific phenotype that cannot be associated to a concrete list of genes

*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

Precision Panels

The Smart Solution:

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

Indications:

• Patient with a genetic heterogeneous disease or condition that can be associated to a concrete list of genes
• Patient with a disease or condition with a complex differential diagnosis
• Patient with a syndromic condition, developmental delay, intellectual impairment or autism spectrum disorder