Germline testing

(Sequence Variants & Copy Number Variants reported) 

Familial Cancer NGS Panel Testing is available for germline samples only. Test requests for tumour samples are not currently accepted* 

*For tumour-based tests including BRCA1 & BRCA2 tumour testing in ovarian and prostate cancer please refer to the Solid Tumour (somatic testing) page.  

AIP, APC, ATM, AXIN2, BAP1, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSDE1, DICER1, EGLN1, EGLN2, EPAS1, EPCAM, EXT1, EXT2, FH, FLCN, GATA2, GREM1, HOXB13, IDH1, KIF1B, MAX, MDH2, MEN1, MET, MLH1, MSH2, MSH6, MUTYH, NF1, NF2, NTHL1, PALB2, PMS2 (limited), POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD51C, RAD51D, RB1, RET, RUNX1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TMEM127, TP53, TSC1, TSC2, VHL 

Full PMS2 testing performed when clinically indicated 

$1,475 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

APC, ATM (c.7271T>G only), BAP1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2 (limited), POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 

Full ATM and/or PMS2 available on request and/or when clinically indicated 

$800 (non-MBS eligible) 

Fully covered (MBS item 73295) 

Fully covered (MBS item 73296) 

Fully covered (MBS item 73304) 

Fully covered (MBS item 73354) 

Fully covered (MBS item 73355) 

Fully covered (MBS item 73356) 

$460 gap (MBS item 73302) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

BRCA1, BRCA2 

$425 (non-MBS eligible) 

Fully covered (MBS item 73295) 

Fully covered (MBS item 73296) 

Fully covered (MBS item 73304) 

$85 gap (MBS item 73302) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

ATM (c.7271 T>G only), BRCA1, BRCA2, CHEK2 (c.1100del only), PALB2, TP53, RAD51C, RAD51D 

Full ATM and/or CHEK2 available on request  

$450 (non-MBS eligible) 

Fully covered (MBS item 73295) 

Fully covered (MBS item 73296) 

Fully covered (MBS item 73304) 

$110 gap (MBS item 73302) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

ATM (c.7271 T>G only), BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2 (c.1100del only), HOXB13, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 

Full ATM and/or CHEK2 available on request  

$600 (Non-MBS eligible) 

Fully covered (MBS item 73295) 

Fully covered (MBS item 73296) 

Fully covered (MBS item 73304) 

$260 gap (MBS item 73302) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

BRCA1, BRCA2, BRIP, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2 (limited), RAD51C, RAD51D, TP53 

Full PMS2 testing performed when clinically indicated 

$575 (non-MBS eligible) 

Fully covered (MBS item 73295) 

Fully covered (MBS item 73296)  

Fully covered (MBS item 73354)  

$235 gap (MBS item 73302) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

EPCAM, MLH1, MSH2, MSH6, PMS2 (limited) 

Full PMS2 testing performed when clinically indicated 

POLD1 and/or POLE available on request 

$450 (non-MBS eligible) 

Fully covered (MBS item 73354) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

APC, AXIN2, BMPR1A, BUB1B, GREM1, MUTYH, NTHL1, POLD1, POLE, PTEN, SMAD4, STK11, TP53  

$575 (non-MBS eligible) 

Fully covered (MBS item 73355) 

Fully covered (MBS item 73356) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

APC, AXIN2, BMPR1A, BUB1B, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2 (limited), POLD1, POLE, PTEN, SMAD4, STK11, TP53, CDH1 

$650 (non-MBS eligible) 

Fully covered (MBS item 73354) 

Fully covered (MBS item 73296) 

Fully covered (MBS item 73355) 

Fully covered (MBS item 73356) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

ATM, BRCA1, BRCA2, CDKN2A, MLH1, MSH2, MSH6, PALB2, PMS2 (limited), STK11, TP53 

$525 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

EPAS1, FH, IDH1, KIF1B, MAX, MDH2, NF1, NF2, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL 

$625 (non-MBS eligible) 

$115 gap (MBS item 73333) 

$285 gap (MBS item 73339) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

AIP, CDKN1B, MEN1, PRKAR1A, SDHA, SDHB, SDHC, SDHD 

$600 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

ATM, BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, PMS2 (limited), TP53  

Full PMS2 testing performed when clinically indicated 

$525 (non-MBS eligible) 

Fully covered (MBS item 73304) 

Preferred Sample: 1x 10ml EDTA 

BAP1, CDK4, CDKN2A, FH, FLCN, POT1, PTCH1, RB1, SUFU 

$525 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

AIP, CDC73, CDKN1B, MEN1, PRKAR1A, PTEN, RET, VHL 

$500 (non-MBS eligible) 

Fully covered (MBS item 73333) 

$330 gap (MBS item 73339) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

BAP1, FH, FLCN, MET, PTEN, SDHB, SDHC, SDHD, TSC1, TSC2, VHL 

$525 (non-MBS eligible) 

$15 gap (MBS item 73333) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

APC, EXT1, EXT2, RB1, TP53 

$450 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

Up to 3 genes can be added to any panel at $50 per additional gene (choose from the Familial One gene list) 

Any gene can be masked from a panel on request 

Requests for any single gene from those listed in the Familial One gene list are accepted for testing (performed by NGS) 

$400 (non-MBS eligible) 

MBS item numbers gene dependent - check Medicare website 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted) 

(Various methods performed [NGS/Sanger sequencing/MLPA] depending on Gene & Variant and positive control sample availability). Testing is available for any of the genes listed in the Familial One gene panel. Please contact the laboratory if testing for a cancer predisposition gene not listed is required. 

For all targeted variant testing please provide either a Peter Mac reference number or external report containing the details of the known/familial variant to be tested.

$200 (non-MBS eligible) 

Fully covered (MBS items 73297 [BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2, TP53], 73357 [APC, MUTYH, MLH1, MSH2, MSH6, PMS2, EPCAM, SMAD4, BMPR1A, STK11 and GREM1]), 73334 [VHL] 

$30 gap (MBS item 73340 [RET]) 

Includes testing of a second confirmatory sample 

Preferred Sample: 2x 10ml EDTA taken 10-15 minutes apart as separate bleeds 

(Hair, saliva or buccal swabs also accepted) 

Testing of a second sample when recommended on our report is performed free of charge 

Confirmation of results reported outside of our laboratory are charged as below 

$200 (non-MBS eligible) 

Fully covered (MBS items 73297 [BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2, TP53], 73357 [APC, MUTYH, MLH1, MSH2, MSH6, PMS2, EPCAM, SMAD4, BMPR1A, STK11 and GREM1]), 73334 [VHL] 

$30 gap (MBS item 73340 [RET]) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted)  

Testing for a Variant of Uncertain Significance for the purpose of segregating the variant within a family is available on request.  

$200 (not MBS covered) 

Preferred Sample: 1x 10ml EDTA 

(Hair, saliva or buccal swab also accepted)  

$37.50