Due to the large number of genes in the human genome, an increasing array of genetic tests are now available for commercial use to assist with clinical diagnosis. The following table displays the genetic tests that are frequently ordered at our Neurology Clinic:
| Genetic Test | Test utilisation |
|---|---|
|
Microarray CGH |
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 |
|
Genetic test (miscellaneous genetic test) |
Used for single genes or gene panels |
|
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 |
|
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 spanel |
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. |
Why genetic testing is needed?
Genetic testing may help confirm a clinical diagnosis, discover new or better treatment options, predict disease progression and prognosis, facilitate early detection of symptoms and associated complications, and inform family planning and genetic counselling.
Getting a diagnosis and having a name for a condition or syndrome supports families, especially with more common conditions like Rett syndrome, joining a disease specific support organisation is beneficial. Confirmation of clinical diagnosis also avoids numerous unnecessary tests, such as neuroimaging.
The genetic diagnosis allows more accurate prognosis in many disorders, such ataxia-telangiectasia and Segawa disease (Dopa Responsive Dystonia) and most of the muscular dystrophies and congenital myopathies, In certain disorders, such as Friedreich Ataxia, the size of abnormal genetic material may also help in the predication of the long term prognosis.
