Mass sequencing can also be used to: Predict or detect organ rejection after a transplant. Study infectious diseases. Detect antibiotic resistance. Carry out genetic relationship testing. Support biomedical research and the development of new treatments and diagnostic methods.

Tests and procedures

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What is mass sequencing used for?

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Diagnosing inherited diseases and identifying carriers of genetic mutations

Mass sequencing can identify the genetic changes responsible for many inherited diseases. In many cases, this technology can provide a diagnosis that may be difficult to reach, even after years of medical tests and appointments with different specialists.

Some examples:

Inherited neurological disorders.
Metabolic diseases.
Inherited heart conditions.
Immunodeficiencies and other diseases of the immune system.
Abnormalities detected during pregnancy.

Selecting treatments

In some types of cancer, mass sequencing can identify genetic changes present in tumour cells. This information can help doctors select the treatment most likely to be effective for each patient.

The aim is to tailor treatment to the individual, improve its effectiveness and avoid medicines that are unlikely to work or that may cause unnecessary side effects.

Other applications

Mass sequencing can also be used to:

Predict or detect organ rejection after a transplant.
Study infectious diseases.
Detect antibiotic resistance.
Carry out genetic relationship testing.
Support biomedical research and the development of new treatments and diagnostic methods.