Genomics Research Centre Diagnostic Clinic - Queensland University of Technology

Site

Genomics Research Centre Diagnostic Clinic

Accreditation No.

14979

Site No.

15219

Date of Accreditation

01 Jun 2017

Address

Queensland University of Technology, Q Block, 60 Musk Avenue
Kelvin Grove, QLD 4059
Australia

genomicsresearchcentre.org

Contact

Dr Robert Smith P: +61 (07) 31380970

Availability

Services available to external clients

Supervision

Not Applicable

Scope of Accreditation

Print scopes
Genomics Research Centre Diagnostic Clinic

ISO 15189 (2012)

  • This facility complies with the relevant National Pathology Accreditation Advisory Council (NPAAC) requirements.

Human Pathology

Service Product Determinant
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted genes Blood Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Epilepsy; Episodic ataxia type 2 (EA2); Familial hemiplegic migraine; Neuromuscular disorders; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK)
Methylenetetrahydrofolate reductase (MTHFR)
Molecular genetics - Assay for defined mutation or polymorphism (including pharmacogenetic testing) - Targeted panels for inherited (germline) DNA/RNA changes Blood Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Epilepsy; Episodic ataxia type 2 (EA2); Familial hemiplegic migraine; Neuromuscular disorders; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Epilepsy; Episodic ataxia type 2 (EA2); Familial hemiplegic migraine; Neuromuscular disorders; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK)
Molecular genetics - DNA extraction Blood; Extracted DNA; Leucocytes (leukocytes) DNA storage for future analyses; Purified PCR product; Sample assessment and identification; Viable DNA; Viable DNA for sequencing; Viable DNA for sequencing and other molecular assays
Molecular genetics - DNA sequencing Blood; Extracted DNA; Fluorescent-labelled DNA sequencing reaction product; Purified PCR product DNA sequence analysis; DNA sequencing reaction purification step; Inherited (germline) whole exome sequencing; Sequenced DNA by Sanger sequencing; Sequenced DNA utilising massively parallel sequencing technologies
Molecular genetics - Screening for an unknown mutation - Whole exome sequencing studies for inherited (germline) DNA/RNA changes Blood Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); Epilepsy; Episodic ataxia type 2 (EA2); Familial hemiplegic migraine; Neuromuscular disorders; Spinocerebellar ataxia; TWIK related spinal cord potassium (TRESK)
Molecular genetics/Cytogenetics - Bioinformatic analysis DNA sequences; FASTQ files; RNA sequences; VCF files Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation

The only data displayed is that deemed relevant and necessary for the clear description of the activities and services covered by the scope of accreditation.

Grey text appearing in a SoA is additional freetext providing further refinement or information on the data in the preceding line entry.