Test Directory
Browse our comprehensive catalog of genetic tests
Leukodystrophy (295 Genes)
Leukodystrophies are a heterogeneous group of inherited disorders characterised by progressive degeneration of the cerebral white matter. These conditions result from defects in myelin development, maintenance, or repair, leading to progressive neurological deterioration including motor regression, cognitive decline, spasticity, ataxia, and seizures. Our Leukodystrophy Panel analyses 295 genes associated with a wide spectrum of leukodystrophies, hypomyelinating disorders, and inherited white matter diseases. The panel covers classic leukodystrophies, hypomyelinating leukodystrophies, vanishing white matter disease, mitochondrial leukoencephalopathies, adult-onset leukodystrophies, peroxisomal disorders, amino acid and organic acid disorders, lysosomal storage disorders, Aicardi-Goutières syndrome, hereditary spastic paraplegia with white matter involvement and metabolic and transport disorders.
NeurogeneticsMyotonic Dystrophy Type 1 (DM1) CTG Repeats DMPK
Triplet repeat-primed polymerase chain reaction (PCR) followed by size analysis using capillary electrophoresis to assess the CTG repeat in the DMPK 3â untranslated region. Specific allele sizing estimates cannot be determined for CTG repeats of >150. Repeat sizing precision is approximately +/- 2 repeats for alleles with 5-24 repeats and +/- 4 repeats for alleles with 77 to 150 repeats.
NeurogeneticsMyotonic dystrophy type 2 (DM2)
Quadruplet-repeat primed (QP)-PCR for the detection of pathogenic CCTG repeat expansions in intron l of the CNBP gene, commonly denoted as (CCTG)n
NeurogeneticsOCULOPHARYNGEAL MUSCULAR DYSTROPHY (GCG Repeat Expansion on PABPN1 Gene)
Oculopharyngeal muscular dystrophy (OPMD) is caused by a GCG trinucleotide repeat expansion in the PABPN1 gene, leading to a toxic polyalanine stretch in the proteins N-terminal domain. Affected individuals present with progressive ptosis, dysphagia, and proximal limb weakness, particularly in the shoulders and thighs. Pathogenic expansions - typically 8 to 13 GCG repeats, resulting in 12 to 17 alanines cause misfolding of the PABPN1 protein. This leads to the formation of intranuclear inclusions in skeletal muscle cells, resulting in cellular toxicity and progressive muscle degeneration.
NeurogeneticsRefsum disease (5 Genes)
Refsum disease is a rare autosomal recessive metabolic disorder caused by impaired breakdown of phytanic acid, leading to its toxic accumulation in tissues. It presents with progressive neurological, ophthalmologic, and dermatologic symptoms.
NeurogeneticsSPINAL BULBAR MUSCULAR ATROPHY (CAG Repeat Expansion Testing in AR gene)
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterised by proximal and bulbar muscle wasting.
NeurogeneticsSpinocerebellar Ataxia - Type 1 (ATXN1)
Spinocerebellar Ataxia Type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by a CAG repeat expansion in the ATXN1 gene on chromosome 6p22.3. This test uses a specialised PCR-based technique to detect CAG repeat expansions in the ATXN1 gene associated with Spinocerebellar Ataxia Type 1.
NeurogeneticsSpinocerebellar Ataxia - Type 12 (ATXN8OS)
Spinocerebellar Ataxia Type 12 (SCA12) is a very rare autosomal dominant cerebellar ataxia, most often linked to CAG repeat expansions in the PPP2R2B gene, and clinically characterized by action tremor, relatively mild cerebellar ataxia, and sometimes pyramidal/extrapyramidal signs or cognitive decline.
NeurogeneticsSpinocerebellar Ataxia - Type 17 (TBP)
A rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterised by a variable clinical picture which can include dementia, psychiatric disorders, parkinsonism, dystonia, chorea, spasticity, and epilepsy.
NeurogeneticsSpinocerebellar Ataxia - Type 6 (CACNA1A)
Spinocerebellar Ataxia Type 6 (SCA6) is a rare, late-onset, progressive neurological disorder characterised by impaired coordination and cerebellar dysfunction, most often resulting from a CAG trinucleotide repeat expansion in exon 47 of the CACNA1A gene; it follows an autosomal dominant inheritance pattern, meaning that a single mutated copy of the gene is sufficient to cause disease.
NeurogeneticsSpinocerebellar Ataxia (SCA) - Comprehensive Panel (SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8 and SCA-17)
The Spinocerebellar Ataxia (SCA) Comprehensive Panel tests for repeat expansions in key genes associated with inherited ataxias, including SCA-1, SCA-2, SCA-3, SCA-6, SCA-7, SCA-8, and SCA-17. It is used for diagnostic, predictive, and carrier testing in patients with progressive cerebellar dysfunction. Method used is Capillary Electrophoresis
Neurogenetics