Important Note: Requires referral through the Cardiac Inherited Disease Group (CIDG) or Genetic Health Service NZ (GHSNZ).
We do not accept referrals from GPs or other referral centres.
Genetic Health Service NZ can be contacted on 0800 476 123.
Cardiac Inherited Disease Group can be contacted on (09) 307 4949 ext. 23634. www.cidg.org.nz
Specimen Collection 8 mL Adult EDTA Blood 4 mL Paediatric EDTA Blood
For paediatric samples a minimum of 0.5ml blood EDTA can be processed. (Microcollect)
Transport all bloods at room temperature within 24-48 hours. If necessary specimens can be refrigerated overnight for transport at room temperature the following day.
For testing of other sample types please contact the laboratory prior to sending.
Turnaround Time: Between 6 weeks and 13 weeks
NOTE: TAT is dependent on approval by CIDG and type of testing required.
Diagnostic Use and Interpretation
Sequencing analysis is available for the identification of mutations within genes associated with inherited cardiac disorders. Case details must be submitted through the Cardiac Inherited Disease Group (CIDG) for clinical review and test selection. Details and forms are available at https://www.cidg.org.nz , and https://www.cidg.org.nz/health-professionals/forms/ . Specimens should be sent directly to LabPLUS, Dept. Diagnostic Genetics, Molecular Genetics for DNA extraction and storage.
Primary Diagnostic Testing: are sent-away to an external accredited laboratory (usually Invitae), for multi-gene NGS panel analysis.
Predictive/Segregation Testing: is carried out by Molecular Genetics for the following genes: BAG3, CACNA1C, CACNB2, CASQ2, DSC2, DSG2, DSP, GLA, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, MYBPC3, MYH6, MYH7, MYL2, PKP2, RBM20, RYR2, SCN10A, SCN1B, SCN5A, TNNI3, TNNT2, TPM1, TTN.
Please note: testing for variants in other cardiac genes may be available upon request please contact the laboratory prior to specimen collection.
For more information about the Molecular Genetics service:
Molecular Genetics information page
Contact Molecular Genetics via:
Lablink ext 22000
Mark Greenslade (Technical Head) ext 22010
Pippa Grainger (Section leader) ext 22014