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Hereditary Breast and Ovarian Cancer
Short Description : Familial Breast and Ovarian Cancer Diagnostic Testing

Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Genetics

Referral Requirements

Important Note:

Referrals can only come from Genetic Health Service NZ (GHSNZ) or from Medical Oncologists who have completed the genetics training for requesting diagnostic testing on patients who meet EviQ criteria.

We do not accept referrals from GPs or other referral centres.

Genetic Health Service NZ can be contacted on 0800 476 123.

Specimen Collection
EDTA8 mL Adult EDTA Blood


A minimum of 0.5ml can be processed. However, sufficient DNA for downstream testing cannot be guaranteed if less than 4.0ml blood is collected.

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: 8 weeks
Assay Method

TEST METHOD:  Next Generation Sequencing (NGS): Capture-based target enrichment is performed using the CE-IVD SOPHiA Genetics Hereditary Cancer Solution v1.1. Sequencing is performed on an Illumina MiSeq platform. Data analysis is performed using the SOPHiA DDM software. Reported variants are confirmed using an orthogonal method.

TARGET GENES AND COVERAGE:  The coding regions and flanking +/-20bp (encompassing the splice sites) of the listed genes are sequenced in this test. 100% coverage of bases within these regions is achieved by NGS (to a minimum depth of 50x) or by Sanger-based sequencing.

Gene Reference Sequences
ATM  LRG_135t1  (NM_000051.3, NP_000042.3)
BRCA1 LRG_292t1  (NM_007294.3, NP_009225.1)
BRCA2 LRG_293t1  (NM_000059.3, NP_000050.2) 
PALB2 LRG_308t1  (NM_024675.3, NP_078951.2)
PTEN LRG_311t1  (NM_000314.4, NP_000305.3
TP53 LRG_321t1  (NM_000546.5, NP_000537.3)

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

For more information about the Molecular Genetics service:

Molecular Genetics information page

Last updated at 15:49:04 22/03/2021