Options according to your patient’s needs

Single gene analysis

Single gene analysis: a set of diagnostic tests (see below) for a specific genetic condition associated with variants in a particular gene or genomic region

Indications:

• Patient with a known genetic disease associated with specific variants in a gene or genomic region
• A clinical diagnosis or suspicion is required

Different technologies depending on the disease-causing variant:

• Gene sequencing by various methods

• MLPA (multiple ligation-dependent probe amplification)

• Repeat expansion testing

Chromosomal microarray

Chromosomal microarray analysis: the gold standard for the detection of deletions and duplications across the genome

Indications:

• Pregnancies at high risk for aneuploidy
• Recurrent miscarriages
• Patient, foetus or stillbirth with multiple congenital anomalies
• Patient with a syndromic condition, developmental delay or intellectual impairment

Precision panels

Precision panels: a set of
diagnostic tests using next generation sequencing (NGS) of multiple genes associated with a condition or phenotype.

Indications:

• Patient with a genetically heterogeneous condition that can be associated with a particular list of genes
• Patient with a condition with a complex differential diagnosis
• Patient with a syndromic condition, developmental delay or intellectual impairment

WES (Whole Exome Sequencing)

The most comprehensive option – whole exome sequencing: analysis of the protein-coding regions of the genome (the exome)

Indications:

• Patient with a complex or non-specific phenotype that is not associated with a particular list of genes

*Trio analysis (biological father, biological mother and index patient) can improve the diagnostic yield by allowing the identification of de novo variants