Diagnosis for More PeopleWhy Genetic TestingNew OpportunitiesPatient JourneySymptomsAvoid a Vicious CircleReferralAADC DeficiencyDuchenne Muscular Dystrophy
This website uses cookies to improve the user experience. By continuing to use our website, you accept our use of cookies.
I understand
Read more

Genetic Testing can Give More People a Correct Diagnosis1

The rapid development of genetic diagnostics and advances in new treatment options in recent years have completely changed the recommendations for screening children and adults who are undiagnosed, have a diagnosis of unknown aetiology, or have a rare disease.
Genetic testing is important for both the person affected and their families. Establishing a diagnosis means that you can provide targeted interventions and possible treatment to your patient. The area is constantly evolving, and new treatment options are being developed.

Why Genetic Testing

Genetic guidance and more accurate prognosis

Possible treatment

Resources and habilitation

Opportunity to participate in studies

Knowledge and new diagnoses

Progress Brings New Opportunities

Every year, around 160,000 children in Europe are born with a rare disease – many of them unfortunately remain undiagnosed.2,3 But in the last ten years thousands of genetic diagnoses have been discovered4 and great progress has been made with genetic testing.
One study has shown that about 40% of patients with a moderate or strong suspicion of genetic disease can get a correct genetic diagnosis after genetic testing.1 In addition, there are now new treatment options, including gene therapies, for a number of rare genetic diseases.
40%

Tom's Journey

Three years ago, no one knew what kind of disease Tom had, but something was not right. He was not developing as expected. Watch the movie about his journey towards a confirmed diagnosis and the possibilities of genetic testing today.

Symptoms

When you suspect that something is wrong and the diagnosis is not established despite repeated examinations, it is important not to stop. Be vigilant when you encounter patients who present symptoms of unclear aetiology - they may be signs of genetic diseases that can be diagnosed by gene sequencing.1

Symptoms may relate to neurological problems, congenital abnormalities, or deviating physical development. Examples of neurological problems include:5
  • Autism spectrum disorder
  • Brain malformation
  • Congenitalor acquired hearing loss
  • Developmental/intellectual disability or delay
  • Seizure disorder
  • Hypertension and/or spasticity
  • Progressive muscle weakness/peripheral neuropathy/ataxia
Also, movement disorders, hypotonia and autonomic dysfunction such as ptosis, excessive sweating and nasal congestion can be seen.

Avoid a Vicious Circle of Examinations and Tests

Listen to the parents

Make the follow up visit sooner

Inform about the possibilities of genetic testing

Do the necessary clinical examinations

Referral to clinical genetics

Letters on different background colors

The Referral is the Basis for the Result

The referral to clinical genetics is very important - they need as complete a clinical picture of the patient as possible. Examples of aspects that are relevant to clinical genetics to take part in are among others:
  • Medical History
  • Phenotyping
  • Photographs
  • Symptoms
  • Test results
  • Biochemical tests
  • MRI
  • Blood Sample for Whole Genome Sequencing
Illustration of two women looking left
With whole genome sequencing complete, clinical geneticists start solving a complex puzzle. The sequencing results, laboratory test results and the symptoms, are compared with those of potential disease-causing genetic variants.
This analysis requires clinical insight, a mathematical mindset, experience, and an ability to see undiscovered connections.

Svar på gentest

Efter det genetiska testet lägger klinisk genetik ett gigantiskt pussel. Svaret från helgenomsekvensringen, provsvar och symtombild jämförs med listor på potentiella sjukdomsorsakande varianter. Det krävs klinisk blick, matematiskt sinne, erfarenhet och en förmåga att se oupptäckta samband.
En genetiskt fastställd diagnos leder till
Illustration of a full-body x-ray

Säkrare prognos

Illustration of a graph with two bars

Rätt behandling

DNA icon

Resurser och habilitering

Möjlighet att delta i studier

Eventuell behandling

Gentest behövs också för att hitta patienter med en viss sjukdom om den eventuellt blir aktuell för behandling i framtiden.

Five Steps To Genetic Testing

Be suspicious of symptoms

Green arrow

Collect family health history

Green arrow

Do the necessary clinical examinations

Green arrow

Contact clinical genetics, offer genetic counseling

Green arrow

Refer to genetic testing

About PTC Therapeutics
PTC Therapeutics, founded in 1998, is a global biopharmaceutical company with operations in more than 50 countries worldwide. We dedicate ourselves to using ground breaking science as we research rare diseases in our efforts to discover and develop treatments for patients living with genetic diseases, such as aromatic L-amino acid decarboxylase deficiency (AADC deficiency) and Duchenne muscular dystrophy (DMD).
Read More About AADC deficiency
Read More About DMD
  1. Stanneheim et al., Integration of whole genome sequencing into a healthcare setting: high diagnosticrates across multiple clinical entities in 3219 rare disease patients, Genome Medicine (2021)
  2. Eurostat Statistics Explained. Fertility statistics (2021)
  3. Nguengang Wakap S et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 28 (2020)
  4. Orphanet Report Series. Prevalence of rare diseases: Bibliographic data (2019)
  5. Genetics In Primary Care Institute. A Toolkit to Improve Care for Pediatric Patients with Genetic Conditions in Primary Care (2016)
PTC Therapeutics logotype
This website is for residents in the Nordics & BeNeLux.
©2023 PTC Therapeutics Ltd
SE-AADC-0285
Cookie policy