Targeted Gene Panel (Next Generation Sequencing)
The NATA accredited Targeted Gene Panel uses NGS technology to simultaneously interrogate fifteen genes that are implicated in neurogenetic disorders. These disorders include:
- Sporadic or Familial Hemiplegic Migraine (SHM or FHM)
- Episodic Ataxia type 1 and 2 (EA1, EA2)
- Spinocerebellar Ataxia type 6 (SCA6)
- Dravet Syndrome
- Generalized Epilepsy with Febrile Seizures plus (GEFS+)
- Epileptic encephalopathy (some forms)
- Rapid-onset Dystonia-Parkinsonism (RDP)
- Alternating Hemiplegia of Childhood (ACH)
- Cerebellar Ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS)
- Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)
- Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)
- COL4A1/COL4A2 leukoencephalopathy
- Fabry disease
- Small vessel diseases
- Related neurological conditions
Symptomatic overlap and variable phenotype presentation of these disorders can cause diagnostic uncertainty, this approach is therefore cost-effective in these cases as known genes with the potential to harbour causative mutations are analysed concurrently reducing the need for consecutive (and costly) testing.
Cost: $580 per sample (including GST)
Cost includes analysis and interpretation for specified disorders along with preparation and sending of report to referring clinician or pathology laboratory. Also includes Sanger sequencing of any detected variants rated Variant of Unknown Significance or higher.
Timeframe: 6-8 weeks from sample receipt
For further details or to order testing please contact grcclinic@qut.edu.au or +61 7 3138 0970
| Gene | Exon Coverage | Gene | Exon Coverage | Gene | Exon Coverage |
|---|---|---|---|---|---|
| CACNA1A | partial coverage for exons 17, 44 and 46 | SCN2A | complete coverage | HRTA1 | complete coverage |
| ATP1A2 | partial coverage for exons 13, 23, 3’UTR | KCNA1 | complete coverage | TREX1 | complete coverage |
| SCN1A | partial coverage for exons 1, 2, 17, 3’UTR | PRRT2 | complete coverage | FOXC1 | complete coverage |
| NOTCH3 | partial coverage for exon 26 | ATP1A3 | partial coverage for exon 22 | COL4A1 | partial coverage for exons 19 and 25 |
| TRESK | complete coverage | GLA | partial coverage for exon 22 | COL4A2 | complete coverage |
