Whole Exome Sequencing (WES) Test in Valladolid

In many cases, the combination of symptoms presented by a patient makes it very difficult to reach a clear diagnosis. This often results in a long journey of medical appointments until, eventually, the underlying cause of the disease is identified.

Whole exome sequencing is a medical test that helps uncover the genetic causes of a disease. The techniques used to sequence the exome enable a precise and rapid diagnosis.

A delayed diagnosis can have a significant impact on a patient’s quality of life.
Moreover, based on the results, informed decisions can be made regarding treatment and medical care. But why turn to whole exome sequencing?

The main cause of many diseases is a mutation in a specific gene, making sequencing essential for its detection.

Therefore, the reasons for undergoing this genetic test include:

• Difficulty establishing a diagnosis
• The need to conduct a broader genetic study

If you or a family member may require whole exome sequencing, you can purchase the test by clicking on the image below and visiting the Megalab center in Valladolid after scheduling an appointment.

Do you need to perform a Whole Exome Sequencing test?

Purchase your medical voucher, select your nearest Megalab laboratory and identify the genetic causes behind the development of a disease.

Purchase Test

The whole exome sequencing test is recommended for all patients with an unclear clinical diagnosis. In some cases, the combination of symptoms a patient presents makes it difficult for the physician to reach a definitive conclusion.

Having an early genetic diagnosis that confirms the clinical suspicion allows for a more informed approach to managing the disease, anticipating clinical phases, and ensuring appropriate follow-up based on the type of condition.

This way, the whole exome sequencing test—which analyzes thousands of genes simultaneously—can help determine the genetic cause of the disease.

Whole exome sequencing is a medical test indicated for individuals with:

• Intellectual disability/developmental delay
• Cardiomyopathies
• Epilepsy
• Muscular dystrophy
• Ataxia/neuropathy
• Hearing loss
• Retinitis pigmentosa
• Bone and connective tissue disorders
• Undiagnosed metabolic disorders
• Short stature
• Complex dysmorphic syndromes
• Immunodeficiency

It’s important to note that whole exome sequencing is not typically used as a first-line test. When a genetic disease is suspected, a comprehensive study is the most appropriate approach.

Please also keep in mind that a medical prescription is required to undergo the whole exome sequencing test.

Whole exome sequencing involves determining the composition of all a patient’s exons using the four-letter genetic code (A, T, C, and G). If the genetic information is altered (a mutation), it means the proteins synthesized may not function properly, potentially leading to the development of disease.

Once the exome has been sequenced, it is compared to a reference sequence with no known alterations in order to identify the mutation that caused the genetic disorder.

Do you need to perform a Whole Exome Sequencing test?

Purchase your medical voucher, select your nearest Megalab laboratory and identify the genetic causes behind the development of a disease.

Purchase Test

This genetic test is performed in Valladolid by Megalab's team of geneticists.
Laboratory experts will collect a blood sample, a small amount of saliva, or buccal cells in order to extract your DNA.

The methodology used for whole exome sequencing is as follows:

1. The sample is collected.
2. Relevant literature is prepared to streamline the workflow and shorten response times.
3. The resulting sequence is aligned with the human genome to identify genetic variants.
4. After analyzing the variants, potentially pathogenic mutations are identified.
5. Finally, the team of clinical geneticists interprets the results and prepares a report.

Once your sample has been collected, the Megalab team will explain how to access your results:

• You will receive an access code to log in to your private area.
• From there, you can check the status of your report.
• If your results are not yet available, they will be marked as "pending”.
• You will also receive the phone number of the lab where you took the test, in case you have any questions while waiting.

After Megalab sends the results, you will be offered a phone consultation with a genetic counselor, who will explain the implications of your results. This consultation is included in the price of the test.

The goal of whole exome sequencing is to obtain the most comprehensive genetic information about the patient, by identifying genetic variants across the more than 20,000 genes that make up the exome—ultimately allowing for a tailored treatment approach.

As mentioned throughout this page, whole exome sequencing is performed at the Megalab sample collection point in Valladolid.

Megalab is one of the largest laboratory networks in Spain, with over 25 years of experience and a well-established reputation. It operates in 54 private hospitals across the country, serving more than 4,500 hospital beds.

In addition, it has a network of over 60 laboratories throughout Spain and provides services to all medical societies, healthcare centers, and hospital management companies.

Currently, Megalab performs around 10,000 analyses daily, including whole exome sequencing.

If you have the required medical prescription, or if your family history or clinical background suggests that this test is appropriate, you can purchase the Whole Exome Sequencing Test by clicking on any of the “Purchase Service” buttons on our website.

If you have any questions, the Operarme Patient Service team will be happy to assist you at +34 91 141 33 56, or by filling out the contact form so we can call you back.

Whole exome sequencing allows for the transcription of all DNA information. In addition to enabling a detailed analysis of the coding sequences and compiling the patient's complete genetic information, this genetic test offers several advantages, such as:

• Among all genetic tests, whole exome sequencing has the highest diagnostic yield.
• By studying a wide variety of genes, it is very likely to identify new genes with clinical significance. This expands the clinical phenotype, meaning the expression of the genotype (genetic information) as influenced by the environment.
• It can also detect new variants or genes associated with the studied pathology that have not yet been described.
• It helps resolve complex diagnostic cases.

Operarme offers whole exome sequencing at the Megalab laboratory in Valladolid. If you would like to take this test, simply click on the image below, purchase the voucher, and go to the center on the date agreed upon with the laboratory.