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Cardiac Inherited Disease Genetic Testing
Short Description : Cardiac Arrhythmia and/or Cardiomyopathy gene panel analysis
Also known as : [Andersen-Tawil syndrome],[Arrhythmogenic Right Ventricular Cardiomyopathy],[ARVC],[BrS],[Brugada Syndrome],[Cardiac Gene Panel Analysis],[Catecholaminergic Polymorphic Ventricular Tachycardia],[CPVT],[DCM],[Dilated Cardiomyopathy],[HCM],[Hypertrophic Cardiomyopathy],[Long QT Syndrome],[LQT],[LQTS],[Romano-Ward Syndrome],[Short QT syndrome],[SQTS]


DNA/RNA
Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics


Referral Requirements

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
EDTA8 mL Adult EDTA Blood
EDTA4 mL Paediatric EDTA Blood

Note:

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 Information

Contact Molecular Genetics via:

Lablink                                                     ext 22000

Mark Greenslade (Technical Head)   ext 22010

Pippa Grainger (Section leader)              ext 22014

Email: DGen@adhb.govt.nz



Last updated at 13:31:24 24/03/2021