Cardiac Inherited Disease Genetic Testing (Blood)

Testing Laboratory

Department

Diagnostic Genetics

Delphic Registration Code (Alpha Code)

DNAT

Test Code (Numeric Code)

7933

Laboratory Handling

Sample Stability

48 hours at room temperature.

Associated Tests

• DNA Extraction and Storage (Blood)

Synonyms

Cardiac Arrhythmia and/or Cardiomyopathy gene panel analysis
CIDG
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

Turnaround Time

13 weeks

Between 6 weeks and 13 weeks. TAT is dependent on approval by CIDG and type of testing required.

Specimen Type

• Buccal Swab
• Guthries Card
• Saliva
• Tissue
• Whole Blood

Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• EDTA (Microtainer)
• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

8

Minimum Sample Volume (ml)

4

Paediatric Specimen Requirements

Tube/Container Type:

Preferred

• EDTA (Lavender Cap)

Acceptable

• EDTA (Microtainer)
• EDTA (Lavender Cap)

Preferred Sample Volume (ml)

4

Minimum Sample Volume (ml)

0.5

Aliquot Instructions

Sample Type

• Whole Blood

Minimum Volume (ml)

8

Transport to Lab

Ambient (8 - 24 degrees Celsius)

Additional Referral/Aliquot Information

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

Test Method

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.

Contact Information