Germline testing

SPECTRUM ONE (28 genes)
APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1 (SCG5), MLH1, MSH2, MSH6, MUTYH, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53
$550 (non-Medicare)
Refer to Medicare reference table below for item numbers

RENAL (15 genes)
BAP1, FH, FLCN, MET, MLH1, MSH2, MSH6, PTEN, SDHA, SDHB, SDHC, SDHD, TSC1, TSC2, VHL
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

BRCA ONLY (2 genes)
BRCA1, BRCA2
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

PARA, PHEO & GIST (paraganglioma, pheochromocytoma & GIST) (18 genes)
EPAS1, FH, IDH1, KIF1B, KIT, MAX, MDH2, NF1, NF2, PDGFRA, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

BRCA PLUS (10 genes)
ATM, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, PALB2, RAD51C, RAD51D, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

PITUITARY (8 genes)
AIP, CDKN1B, MEN1, PRKAR1A, SDHA, SDHB, SDHC, SDHD
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

BOPP (Breast, Ovarian, Prostate & Pancreas) (20 genes)
ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

MELANOMA (8 genes)
BAP1, BRCA2, CDK4, CDKN2A, POT1, PTEN, RB1, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

OVARIAN (12 genes)
BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, RAD51D, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

GORLIN SYNDROME (2 genes)
PTCH1, SUFU
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

PROSTATE (11 genes)
ATM, BRCA1, BRCA2, CHEK2, HOXB13, EPCAM, MLH1, MSH2, MSH6, PMS2, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

FACIAL PAPULE SYNDROME (5 genes)
FH, FLCN, PTEN, TSC1, TSC2
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

PANCREAS (12 genes)
ATM, BRCA1, BRCA2, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS2, STK11, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

SCHWANNOMATOSIS (3 genes)
LZTR1, NF2, SMARCB1
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

COLORECTAL & ENDOMETRIAL (20 genes)
APC, AXIN2, BMPR1A, BUB1B, CDH1, EPCAM, GREM1 (SCG5), MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

SARCOMA (5 genes)
APC, EXT1, EXT2, RB1, TP5
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

MMR (Mismatch Repair) (7 genes)
EPCAM, MLH1, MSH2, MSH6, PMS2, POLD1, POLE
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

HAEM MALIGNANCY PREDISPOSITION (10 genes)
ANKRD26, CEBPA, DDX41, ETV6, GATA2, MBD4, RUNX1, SAMD9, SAMD9L, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

POLYPS (13 genes)
APC, AXIN2, BMPR1A, BUB1B, GREM1 (SCG5), MUTYH, NTHL1, POLD1, POLE, PTEN, SMAD4, STK11, TP53
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

ENDOCRINE (8 genes)
AIP, CDC73, CDKN1B, MEN1, PRKAR1A, PTEN, RET, VHL
$450 (non-Medicare)
Refer to Medicare reference table below for item numbers

Predictive Testing

Testing of a known familial variant (Likely Pathogenic or Pathogenic).

Any of the genes that are part of a panel are available to request for targeted testing of a known variant(s).

A Peter Mac Lab ID or external report containing the variant details MUST be provided for this testing.

Testing of two independent sample collections is recommended. Please submit a request form for each sample. Confirmatory testing of the second sample is included when a second sample is provided.

$250 (non-MBS eligible)

Medicare Item numbers:

• 73297: BRCA1, BRCA2, STK11, PTEN, CDH1, PALB2, TP53 predictive testing (or in genes associated with breast, ovarian, fallopian tube or primary peritoneal cancer)\
• 73334: VHL predictive testing
• 73340: RET predictive testing
• 73357: APC, MUTYH, MLH1, MSH2, MSH6, PMS2, EPCAM, SMAD4, BMPR1A, STK11, GREM1 predictive testing

Testing of a second sample when recommended on our report.

Any of the genes that are part of a panel are available to request for targeted testing of a known variant(s). A Peter Mac Lab ID MUST be provided for this testing.

Free of charge

Testing for a known familial Variant of Uncertain Significance for the purpose of segregating the variant within a family.

Any of the genes that are part of a panel are available to request for targeted testing of a known variant(s). A Peter Mac Lab ID or external report containing the variant details MUST be provided for this testing

$250 (not MBS covered)

Germline testing of a variant detected in a tumour sample. Targeted testing of a known variant(s) is available for any of the genes listed as part of a gene panel above.

A Peter Mac reference number or external report containing the details of the familial variant to be tested MUST be provided.

Various methods performed depending on Gene & Variant and positive control sample availability (NGS/Sanger sequencing/MLPA).

$250 (non-MBS eligible)

Medicare Item numbers:

• 73302: BRCA1 or BRCA2 variant detected in tumour, for germline vs somatic origin testing

Confirmation of research/external known Likely Pathogenic or Pathogenic familial variant. Targeted testing of a known variant(s) is available for any of the genes listed as part of a gene panel above.

A research or external report containing the details of the familial variant to be tested MUST be provided.

Various methods performed depending on Gene & Variant and positive control sample availability (NGS/Sanger sequencing/MLPA).

$250 (non-MBS eligible)

$250 (non-MBS eligible)

Single gene testing can be requested for any gene included in our gene panels (see gene panel section above).

Single gene testing can also be requested in the following genes: CSDE1, DICER1, EGLN1, EGLN2, MLH3, MSH3, RNF43, SMARCA4, SMARCE1

Non-Medicare:

• Single gene = $350
• Each additional gene = $50 per gene (up to 6 genes may be requested)

Medicare Item numbers:

Any of the genes/panels listed above are available to request for re-analysis of a sample previously tested. Gene/panel availability is subject to the methodology used at the time of testing.

Non-Medicare:

• Re-analysis is provided free of charge for up to 4 genes
• More than 4 genes = $150 (flat cost regardless of number of genes)

Test information

• All Cancer Predisposition testing is performed using Next Generation Sequencing.
• Screening analysis includes copy number variant (CNV) detection for GREM1 (SCG5) and EPCAM, single nucleotide variant (SNV) detection in exonuclease domains of POLE and POLD1 and both SNV and CNV detection for all other genes.
• All tests listed are for germline testing, refer to the Specimen Requirements section below for a list of accepted specimen types. Assays for tumour samples are available, please see Molecular Pathology.
• If requesting Cancer Predisposition testing on a patient with active haematological malignancy please consider sending a non-haematological specimen for testing (hair preferred). Bone marrow is not an accepted sample type for this panel. Please provide relevant pathology reports.
• PMS2 testing: When evidence of loss of expression of MLH1/PMS2 by immunohistochemistry (IHC) is provided (IHC report) exons 11-15 long-range PCR & Sanger sequencing is performed in addition to NGS. Otherwise, all exons of the PMS2 gene are tested by NGS and if a variant is detected, it is confirmed by long-range PCR and Sanger sequencing prior to reporting.

Gene panels:

• Spectrum One = $550
• All other Cancer Predisposition panels = $450
• Add on genes = $50 per gene (up to 5 additional genes may be added to a panel)

Single gene

• Single gene = $350
• Each additional gene = $50 per gene (up to 6 genes may be requested)

Targeted Variant testing

• $250

Re-analysis

• Re-analysis is provided free of charge for up to 4 genes
• More than 4 genes = $150 (flat cost regardless of number of genes)

See below applicable Medicare item numbers available for various categories of testing. If selecting Medicare as the Payment, please provide the relevant item number using the information below to avoid billing errors and unnecessary charges to the patient. Further details, visit MBS Online.