For many families living with rare diseases, the journey to diagnosis can be long, emotionally exhausting, and filled with uncertainty. Patients may visit multiple specialists, undergo repeated medical examinations, and still struggle to obtain a clear explanation for their symptoms. In many cases, the absence of a definitive diagnosis can delay appropriate treatment and increase anxiety for both clinicians and families.
A recent case in Indonesia highlights how genomic technologies such as Whole Exome Sequencing (WES) can help provide critical answers for complex and unexplained medical conditions.
The patient, a young girl with initial normal growth and development, began experiencing dermatological abnormalities and progressive recurrent neurological symptoms during her childhood growth. Despite undergoing numerous clinical evaluations and imaging studies over several years, her condition remained challenging to fully establish.
How Genetic Testing Identified the Underlying Tuberous Sclerosis Complex Disease
As part of NGI commitment to expanding access to advanced genomic diagnostics in Indonesia, NGI provided complimentary diagnostic support through Trio Clinical Whole Exome Sequencing (cWES) for the patient and her family. This initiative aimed to help address the patient’s prolonged diagnostic odyssey caused by the complexity of her clinical presentation and multisystem manifestations.
Through comprehensive genomic analysis involving the patient and both parents, we successfully identified a pathogenic variant associated with Tuberous Sclerosis Complex (TSC). The molecular diagnosis provided a definitive explanation for the patient’s clinical manifestation, ending years of uncertainty for the family and providing greater clarity regarding the cause of the disease. More importantly, the confirmed diagnosis enabled clinicians to develop a more targeted and informed treatment, also a long-term disease management plan for the patient.
About Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by mutations in TSC1 and TSC2 genes inherited through an autosomal dominant way or novel mutation, in which non-cancerous cell growths develop in different parts of the body, including the brain, skin, kidneys, heart, lungs, and eyes. These growths can lead to health problems such as seizures, epilepsy, learning and developmental difficulties, skin changes, and kidney problems.
About Rare Disease Genetic Test
Rare diseases are often difficult to diagnose because symptoms can vary significantly between patients and may overlap with other medical conditions. Traditional diagnostic approaches alone may not always identify the root cause, especially in genetically complex disorders. Genomic tests such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) are increasingly becoming valuable tools for clinicians investigating unexplained neurological, developmental, metabolic, and multisystem diseases.
While WES focuses on analyzing the protein-coding regions of genes that are most commonly associated with disease, WGS provides a more comprehensive analysis of the entire genome, uncovering more details which WES may not reveal. Together, these technologies can help shorten the diagnostic journey for patients with rare diseases and support more precise, personalized medical care.
As genomic medicine continues to advance in Indonesia, access to comprehensive genetic testing may help more patients and families receive earlier diagnoses, more informed clinical management, and greater confidence in navigating complex medical conditions.
Reference:
Zamora, Edgar A., and Narothama R. Aeddula. 2021. “Tuberous Sclerosis.” PubMed. Treasure Island (FL): StatPearls Publishing. 2021. https://www.ncbi.nlm.nih.gov/books/NBK538492/.
