Next Generation Sequencing

Since 2022, the Genetics Unit provides, among other services, Next Generation Sequencing, "a state of the art" technique which is a game changer in the field of medical genetics over the past 10 years; it allows the analysis of thousands of genes simultaneously, making the diagnosis of patients faster and much more cost-efficient.

The Genetics Unit provides a range of sequencing and analysis services:

  • Analysis of a small group of genes, which includes 1-100 genes (cost 390€)
  • Analysis of a large group of genes, which includes 101-500 genes (cost 420€)
  • Analysis of the entire coding genome which includes >19.000 genes and alternatively called Whole Exome Sequencing (WES) (cost 750€)

Specifically,

  • The analysis of a small gene panel (1-100 genes) is recommended for the search and identification of genetic variants related to diseases such as:

neurofibromatosis

tuberous sclerosis

hereditary cancer (BRCA1/2, TP53, WT1, VHL, etc.)

aortopathies (Marfan syndrome, Ehlers-Danlos)

craniosynostosis

polycystic kidney disease

early-onset inflammatory bowel disease

Noonan syndrome and other RASopathies

epidermolysis bullosa

congenital nephrotic syndrome

nephrolithiasis

peripheral polyneuropathies

monogenic diabetes mellitus and hyperinsulinism

morbid obesity

hypophosphatemia, etc.

  • The analysis of a large gene panel (101-500 genes) is recommended for the search and identification of genetic variants related to diseases such as:

hypertrophic cardiomyopathy

retinopathies

congenital cataracts

corneal dystrophies

genetic epilepsy

familial arrhythmias

immunodeficiencies

skeletal malformations

metabolic diseases

albino dystrophies

cerebral palsy of genetic origin

arthrography

hearing loss/deafness

congenital myopathies

recurrent rhabdomyolysis, etc.

  • The analysis of the entire coding genome - WES (>19,000 genes) is recommended for the search and identification of diseases with a complex clinical picture, where the analysis of a single group of genes is not sufficient.

The sequencing of the genome is carried out by the German company Eurofins. The analysis of the data is carried out by the specialised scientific staff of the Genetic Unit at Papageorgiou Hospital. The staff of the Unit have many years of experience in analysis, both in Greece and in other European countries that have been applying this method systematically for 10 years.

It is noted that in all three cases above (small group of genes, large group of genes, WES), the Genetics Unit carries out sequencing of the entire coding genome (>19.000 genes) and then performs an analysis of the requested gene set (or all genes if it is a WES). Therefore, the result includes results for the specific gene set, but the Genetics Unit keeps a record of the results for the gene set in its raw data (rawdata) for the whole coding genome of the examinee. Following strict privacy rules, the raw data is accessible only by the qualified staff of the Genetics Unit, provided that written consent is obtained from the subject or his/her parents/guardians. The Genetics Unit provides the possibility of further analysis of the data, in order to seek a genetic diagnosis in subjects in whom no significant findings were identified in the initial analysis (e.g. small gene cluster).

Effectively, even if a patient has undergone analysis of a small gene panel, it is possible to analyse more genes or even the entire coding genome (WES) without repeating the sampling or testing. Bearing in mind that Genetics are evolving daily with the discovery of "new" genes and "new" genetic diseases, the Genetics Unit also provides the possibility of re-analysis of the stored data every two years. Re-analysis of the data provides additional 10-20% diagnoses in cases which were unsolved during the initial testing.

The Genetics Unit has close co-operation with research academic centres in Greece and other countries, where it is possible to carry out functional studies for the investigation of rare genetic findings, such as findings of unknown clinical significance (variants of unknown significance, VUS).

In the Genetics Unit, apart from patients, healthy couples are also tested prior to childbearing (natural conception or assisted reproduction) in order to find out whether they are carriers of genetic diseases. Carrier testing covers >99% of mutations for 19 genetic diseases often found in the Greek and Mediterranean/European population (cost 360€).

The conditions include, among others:

  • cystic fibrosis
  • alpha-thalassaemia
  • beta-thalassaemia and sickle-cell anaemia
  • spinal muscular atrophy (SMA)
  • fragile X syndrome (FragileX)
  • congenital deafness
  • phenylketonuria
  • Duchenne muscular dystrophy, etc.
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