Targeted Mutation Testing

Targeted Mutation Testing – Sanger Sequencing (3500 Genetic Analyser)

A NATA accredited Sanger sequencing method is used for targeted mutation testing of single exons for the conditions specified in our other tests, including Familial Hemiplegic Migraine, Episodic Ataxia, Spinocerebellar Ataxia, Epilepsy, CADASIL and related neuromuscular conditions.

This approach is cost-effective for suspected specific genetic mutation based on prior data from family members.

Specific genes include:

  • CACNA1A gene
  • ATP1A2 gene
  • SCN1A gene
  • SCN2A gene
  • KCNA1 gene
  • PRRT2 gene
  • ATP1A3 gene
  • TRESK gene
  • NOTCH 3 gene
  • HTRA1 gene
  • TREX1 gene
  • FOXC1 gene
  • COL4A1 gene
  • COL4A2 gene
  • GLA gene
  • MTHFR gene (eg C677T functional mutation) – $79.20 per sample (including GST)
  • Variant identified in gene from prior familial testing
  • SNP detection

Cost: $220 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.

Timeframe: 6-8 weeks from sample receipt

* The GRC is NATA accredited to provide sequencing diagnostic services for the indications as listed above. Sequencing for other conditions is not NATA accredited, but employs identical methods.

For further Details or to order testing please contact or +61 7 3138 0970