Trio Exome Sequencing

Trio exome sequencing is essential when clinical findings suggest a possible genetic basis for an individual’s condition. It is often used in the following scenarios:
1. Confirming a Genetic Diagnosis: If there is a suspected genetic disorder, this test can confirm the diagnosis.
2. Guiding Treatment: Knowing the exact genetic cause helps doctors plan better treatments.
3. Reproductive Planning: If you’re thinking about having more children or have experienced recurrent miscarriages, trio exome sequencing can identify the risk factor.
4. Understanding Rare or Unexplained Diseases: Trio exome sequencing shares definite results for unexplained health problems, such as neurological symptoms like epilepsy, ataxia, or intellectual disability.
5. Understanding Disease Risk: It helps understand the risk of a genetic disease in the family and facilitates prognosis.

Trio exome sequencing can detect several types of genetic alterations:
1. Inherited Variants:
In the case of a recessive disease, the child inherits one defective gene copy from each parent. Both copies together cause the disorder. In a dominant disease, the condition manifests when one faulty gene copy is passed down from an affected parent.
2. De Novo Variants:
These are mutations present in the child but absent in both parents. Trio exome sequencing is uniquely effective in identifying these new mutations.

Trio exome sequencing is effective because it analyses the child’s and parents’ genetic data together. Including both parents improves diagnostic accuracy and reduces false positives. Here’s how:
1. Improved Accuracy: By comparing the child’s DNA with that of both parents, experts at MedGenome can distinguish inherited mutations from new ones. This combined analysis considers all critical mutations and prevents misinterpretation of benign variants as harmful.
2. Distinguishing between inherited and de novo variants: By analysing the DNA of both parents, it is possible to determine whether a particular variant in the child is inherited from one or both parents or is a de novo mutation.
3. Detecting Complex Cases: Some genetic disorders occur when a child inherits two different faulty versions of a gene from each parent. This is easier to detect when both parents’ DNA is analysed.
4. Reduced false positives: Comparing the child’s variants to those of their parents helps eliminate variants that are likely benign.

1. Sample Collection: A blood sample (3–5 ml) is collected from the child and both parents.
2. DNA Extraction: Genomic DNA is extracted from these samples.
3. Next-Generation Sequencing: Using the Illumina platform, MedGenome sequences the coding regions of all genes. This comprehensive sequencing captures even minor genetic alterations.
4. Data Analysis: The sequence data is aligned and analysed to pinpoint disease-causing mutations. Advanced bioinformatics tools help identify and classify these genetic variants.
5. Turnaround Time: The turnaround time for trio exome sequencing is 19 working days from the time we receive your sample.

MedGenome offers a reliable trio exome sequencing with several advantages that set it apart:

1. Quality Control (Mendelian QC):
This quality check ensures the samples are correctly related (i.e., the child and parents), reducing errors and increasing confidence in results.

2. Enhanced Accuracy:
By combining data from the proband and parents, our variant calling process is more accurate, even in regions that are challenging to sequence.

3. Higher Diagnostic Rate:
MedGenome achieves a higher rate of diagnosis compared to analysing just a single proband sample.

4. Comprehensive Inheritance Analysis:
MedGenome looks for genetic changes from all possible inheritance patterns, whether recessive, dominant, or new (de novo).

5. Variant Prioritisation:
MedGenome matches the genetic findings with the child’s symptoms to focus on the most important variants.

6. Genetic Counselling Support:
Pre-test and post-test counselling to help families understand the results and their implications.

Trio exome sequencing can bring clarity and guide your next steps, whether it’s for treatment, family planning, or understanding your genetic makeup. For more details or to book your test, visit MedGenome’s website or consult your healthcare provider today.