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Pontocerebellar Hypoplasia, Genetic Testing

Includes 1 mutation
Saliva
4 - 5 Weeks
210€

Pontocerebellar hypoplasia (PCH) is a group of rare neurodegenerative disorders characterized by underdevelopment (hypoplasia) of the pons and cerebellum in the brain. These structures are essential for motor control, coordination, and other neurological functions.

Pontocerebellar hypoplasia genetic testing is included in Diagnostiki Athinon Monogenic Diseases Genetic Testing along with approximately 100 other inherited diseases, including cystic fibrosis (71 mutations) and hereditary breast cancer (genes BRCA1 415 mutations & BRCA2 419 mutations).

Pontocerebellar hypoplasia is a genetically heterogeneous condition that can result from mutations in different genes. The severity of symptoms and the age of onset can vary depending on the specific genetic mutation involved.

Standard features of pontocerebellar hypoplasia may include:

  • Severe developmental delay: Children with PCH typically experience delays in reaching developmental milestones, such as sitting, crawling, and walking.
  • Problems with movement: Motor impairments, including muscle weakness, tremors, and difficulty with coordination, are common.
  • Intellectual disability: Cognitive impairment is often present, ranging from mild to severe.
  • Respiratory difficulties: Some individuals with PCH may have breathing problems, which can be life-threatening.
  • Seizures: Seizures may occur in individuals with pontocerebellar hypoplasia.
  • Feeding difficulties: Swallowing and feeding problems are common, leading to nutrition and weight gain challenges.
  • Abnormal muscle tone: Hypotonia (low muscle tone) is frequently observed.

Diagnosing pontocerebellar hypoplasia is typically based on clinical features, neuroimaging studies (such as magnetic resonance imaging or MRI), and genetic testing to identify specific mutations.

There is no cure for pontocerebellar hypoplasia, and treatment focuses on supportive care to manage symptoms and improve the quality of life. This may include physical and occupational therapy, speech therapy, and medications to address specific symptoms.

One of the most affected genes in cerebellopontine hypoplasia is TSEN54. This gene encodes for a subunit of the transfer RNA splicing and splicing complex, which is involved in processing various types of RNA.

The c.919G>T (p.Ala307Ser) mutation in the TSEN54 gene is present in 90% of those with pontocerebellar hypoplasia type 2. This variant affects the structure of the protein. The mutation has been found in both homozygosis and compound heterozygosis.

Pontocerebellar hypoplasia genetic testing analyzes the 1 most frequent pathogenic mutation of the TSEN54 gene.

The technique used for genetic testing analyzes only the gene's specific mutations, which are the most important and frequent in the literature. However, it should be noted that there are likely other gene or chromosomal mutations in the gene to be tested that cannot be identified with this method. Different analysis techniques can be used for these cases, such as next-generation sequencing (NGS).

Additional information
Tests includedIncludes 1 mutation
Sample Saliva
Results Time4 - 5 Weeks
Procedure completion test
Step 1

Purchase the test you want online

Select the tests you wish, through the most complete range of Preventive and Functional Medicine tests and purchase them online.

Step 2

Sampling

We send you the certified package - sampling collection kit, to collect your sample, always in accordance with the instructions contained within the kit.

Step 3

Sending your sample

After you have collected your sample, place it in the prepaid shipping package, contact the courier company and send it to our certified laboratory.

Step 4

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

Step 1

Book an appointment and buy the test online

Select from the most complete range test of Prevention, Andrology and Diagnostics, book an appointment in real time and purchase them online.

Step 2

Sampling

Visit the certified laboratory of Diagnostiki Athinon on the date and time you have chosen, to perform the sampling.

Step 3

Receiving the test results

Download your test results easily and securely anytime you want by logging in to your personal account.

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