Test Directory
Browse our comprehensive catalog of genetic tests
OCULOPHARYNGEAL 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
NeurogeneticsSpinocerebellar ataxia, Comprehensive (62 Genes)
The Spinocerebellar Ataxia, Comprehensive Panel (62 genes) is a genetic test designed to identify pathogenic variants across a broad spectrum of genes associated with hereditary ataxias, particularly autosomal dominant and recessive spinocerebellar ataxias (SCAs). Spinocerebellar ataxias (SCAs) are a group of genetically and clinically heterogeneous neurodegenerative disorders characterized by progressive cerebellar dysfunction. This comprehensive panel is used to diagnose known and rare forms of SCA, especially when clinical features overlap or are atypical.
NeurogeneticsUnverricht-Lundborg Disease (Repeat expansions in the CSTB gene)
Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterised by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time. Worldwide prevalence unknown; Finland prevalence 2-4/100,000. Found across ethnicities/ancestries, with population-dependent prevalence; highest in Tunisia, Algeria, Morocco, and Finland. Affected individuals have an unstable 12-nucleotide (dodecomer) repeat (CGCGGGGCGGGG)expansion. Alleles containing 2-3 motifs are considered benign, while alleles with 30-125 repeats are fully penetrant3 . Alleles in the range 12-17 repeats have been observed, however the individuals carrying them have not undergone clinical evaluation. Alleles in the range 4-11 and 18-29 repeats have not been reported to date.
Neurogenetics