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Schizophrenia, Genetic Testing

Schizophrenia is a severe psychiatric disorder characterized by distorted thinking, hallucinations, delusions, and impaired emotional reactions. It often affects cognitive function and social functioning. Treatment usually involves a combination of antipsychotic medications, psychotherapy, and support services to manage symptoms and improve quality of life. The assessment of the Polygenic Risk Score for schizophrenia is based on the examination of 90 gene polymorphisms.

Genetic testing for schizophrenia is included along with 15 other diseases in the Genetic Screening for Diseases of the Nervous System, Polygenic Risk Score.

Causes and non-genetic risk factors

The exact causes of the disease are unknown. Still, it is thought to result from a combination of genetics and environmental and/or psychosocial factors that cause dysregulation of brain physiology. Studies carried out to date show that an imbalance in neurotransmitter levels occurs in those affected.

Risk factors that may contribute to the development of this disorder include:

  • Presence of other undiagnosed mental disorders.
  • Some complications during pregnancy and birth, such as malnutrition or exposure to toxins or viruses, may affect brain development.
  • Use of psychoactive or psychotropic drugs during adolescence and young adulthood.

Schizophrenia is usually diagnosed before the age of 30 years, being very rare in children, and after 45 years. Symptomatology includes problems with thinking, behavior, and emotions. Signs and symptoms can vary. The most common are the following:

  • Fantasies: those affected present false beliefs that have no basis in reality, such as believing they are being harassed or that a catastrophe will occur.
  • Hallucinations involve seeing or hearing things that do not exist. They can involve any of the senses, but hearing voices is usually the most common.
  • Disorganized or abnormal motor behavior may include resistance to following instructions, inappropriate posture, or unresponsive movement.
  • Impaired communication, with meaningless conversations.
  • Negative symptoms are associated with disruption of everyday emotions and behaviors. They are more challenging to recognize. People who have negative symptoms need help with daily tasks.
  • Social withdrawal, decreased school performance, irritability, and lack of motivation may occur in adolescents.

It is common for symptoms to change over time concerning type and severity, alternating periods of worsening, and remission.


The exact causes of schizophrenia are unknown, so total prevention of the disease is not possible. Several factors are known to contribute to its onset. Among the non-modifiable ones, the best known is a genetic predisposition: 10% of people with schizophrenia have a close relative (parents, siblings) who have been diagnosed with it.

There are also several actions that can help to decrease the risk of onset of the disease:

  • Control in pregnancy and after childbirth allows to avoid complications such as malnutrition of the baby, preeclampsia, or early approach of possible neonatal infections.
  • Avoidance of drugs such as cannabis, alcohol, or cocaine.
  • Avoid exposure to traumatic events in children and adolescents.
  • Maintaining good social relationships helps to have good self-esteem, reduce stress, and not feel alone.
  • Stress management.
  • Use protective measures for head injuries, such as helmets when riding a bike or motorcycle.
  • A healthy lifestyle includes regular exercise and eating healthy foods.

Schizophrenia requires lifelong treatment, even if symptoms disappear. The multidisciplinary therapies available, including pharmacological and psychiatric approaches, help to control the disease effectively and prevent the onset of outbreaks.

Additional information
Results Time4 - 5 Weeks
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