Targeted Gene Panel (Next Generation Sequencing)

Targeted Gene Panel (Next Generation Sequencing)

The NATA accredited Targeted Gene Panel uses NGS technology to simultaneously interrogate five genes that are implicated in neurogenetic disorders.

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 0874

Gene NATA accredited Indications* Gene Coverage
Full Coverage Partial Coverage#
CACNA1A  Familial Hemiplegic Migraine type 1 (FHM1);

Episodic Ataxia Type 2 (EA2);

Spinocerebellar Ataxia Type 6 (SCA6)

Exons: 2-28, 30-41

UTR: 5’UTR

Exons: 1, 29,

Introns: 11, 20, 25

UTR: 3’UTR

ATP1A2  Familial Hemiplegic Migraine Type 2 (FHM2) Exons: 1-7, 9-23

UTR: 5’UTR

Exons: 8

UTR: 3’UTR

SCN1A  Familial Hemiplegic Migraine Type 3 (FHM3);

Epilepsy

Exons: 1, 3-5, 7-14, 17, 19-27

UTR: 3’UTR

Exons: 2, 6, 15, 16, 18

Introns: 21

UTR: 5’UTR

NOTCH3  Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) Exons: 1-9, 11-29, 32, 33

UTR: 5’UTR

Exons: 10, 30, 31,

UTR: 3’UTR

TRESK Familial Hemiplegic Migraine (non-specific) Exons: 1-3

UTR: 5’UTR, 3’UTR