Why genetic testing is needed?
Genetic testing is an invaluable tool that can significantly enhance the medical journey for individuals and families. It not only aids in confirming clinical diagnoses but also opens doors to potential new or more effective treatment options. Additionally, it plays a vital role in predicting disease progression and prognosis, facilitating the early detection of symptoms and associated complications, and providing critical information for family planning and genetic counseling.
For families, receiving a definitive diagnosis can be a source of reassurance and clarity. Understanding the specific name and nature of a condition or syndrome, such as Rett syndrome, empowers families to seek out tailored support and resources. Engaging with disease-specific support organizations can foster a sense of community and connection during challenging times. Moreover, securing a clear clinical diagnosis can help patients avoid a series of unnecessary and potentially uncomfortable tests, including neuroimaging or further invasive investigation.
The impact of a genetic diagnosis extends beyond mere identification; it enables healthcare professionals to deliver more accurate prognoses across a spectrum of disorders. This includes conditions like GNAO1 related neurodevelopmental disorders (a deep brain stimulation responsive movement disorder), Segawa disease (a Dopa Responsive Dystonia), various muscular dystrophies, and congenital myopathies. In certain cases, such as Friedreich Ataxia, the extent of abnormal genetic material not only aids in diagnosis but also provides valuable insights into the potential trajectory of the disease, helping families prepare for the future with greater understanding and support.
Owing to the extensive complexity of the human genome, a growing variety of genetic tests have become available for commercial use, playing a crucial role in enhancing clinical diagnosis. The table below highlights the most commonly requested genetic tests conducted at our Paediatrics & Neuroscience Centre, illustrating the diverse options available for patient evaluation and care.
| Genetic Test | Test utilisation |
|---|---|
|
Chromosomal Microarray (CMA) |
Used to identify copy number variation (deletions and duplications). It is the first line genetic test for children with developmental delay, learning disability, autism, epilepsy, congenital abnormalities, and prenatal testing. |
|
Chromosomes (karyotype) |
Used to identify chromosomal abnormalities |
|
Fragile X Nucleic Acid Detection |
Used for Fragile X syndrome testing |
|
Epilepsy Panel |
Used to analyse genes that are associated with recurrent epileptic seizures |
|
Neuromuscular Panel |
Used for analyse genes that are associated with hereditary neuromuscular disorders, including muscular dystrophies, inherited myopathies, mitochondrial disorders, congenital myasthenic syndromes, and rhabdomyolysis |
|
Treatable Neurometabolic Panel |
Used to analyse genes that are associated with inherited neurometabolic disorders which have treatments of varying efficacy |
|
Dystonia Panel |
Used to analyse genes that are associated with dystonia and related movement disorders |
|
Hereditary Spastic Paraplegia Genetic Panel |
Used to analyse genes associated with hereditary spastic paraplegia (HSP), a heterogeneous group of neurological conditions characterised by lower limb spasticity and muscle weakness. |
|
Cerebral Palsy Spectrum Disorder Panel |
Used to analyse genes to determine the underlying causes of cerebral palsy (CP), which is a heterogeneous group of neurodevelopmental conditions characterised by abnormal movements, fluctuating patterns of muscle tone and posture |
|
Rett and Angelman Syndromes and Related Disorders Panel |
Used for early onset developmental disorders related to the Rett or Angolan spectrum – presenting with seizures, developmental delay, speech and language delays, learning disability, congenital anomalies and dysmorphic features. |
|
Whole Exome Sequencing (WES) |
Used to analyse all the genes in the human genome. |
If you have any further questions, you can schedule an appointment today with Dr Yeo.
