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

Genomics Research Centre Diagnostic Clinic - Queensland University of Technology address map

Scope of Accreditation

Print scopes
Genomics Research Centre Diagnostic Clinic

ISO 15189 (2022)

  • 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; Extracted DNA 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; Extracted DNA 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; Leucocytes (leukocytes) DNA storage for future analyses; Purified PCR product; Sample assessment and identification; 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; Sequenced DNA by Sanger sequencing
DNA sequence analysis; Sequenced DNA utilising massively parallel sequencing technologies
DNA sequence analysis; Inherited (germline) whole exome 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; Extracted DNA 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 and/or cytogenetics - Bioinformatic analysis DNA sequences; FASTQ files; 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
Primary analysis - Conversion of instrument file to FASTQ or FASTA file; Secondary analysis - Alignment and variant calling; Tertiary analysis - Data annotation and interpretation

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