Clinical exome
Test code: EXOME-MAX
MAXIMUM
Whole Exome Sequencing (WES) with the subsequent analysis restricted to clinical indications.
Including an analysis of:
- copy number variations (CNV),
- clinically relevant variants in non-coding regions,
- mitochondrial genome
Pathogenic and likely-pathogenic variants, responsible for disease symptoms, confirmed by Sanger sequencing. Segregation analysis for positive results (depending on the availability of control samples from parents/siblings).
The test price includes two genetic consultations - before and after genetic testing.
The most comprehensive clinical WES in Poland, performed in our own laboratory, including the mitochondrial genome analysis.
Processing Time: Time: up to 14 weeks
Price: 4700.00 zł
We perform genetic testing from:
saliva (the Oragene kit, spitting into a tube is required for sample collection, therefore the kit is not suitable for children under the age of 5)
venous blood collected
