OVERVIEW

Predict

90-95% of most cancers occur sporadically without an inherited genetic cause. 5-10% are associated with a genetic cause, for which we offer 14 separate gene panels covering >30 cancer types spanning across >10 organs and one large targeted comprehensive panel that includes 54 genes associated with many cancer types.
The outcome of the test can be a risk estimation of developing cancer from a genetic cause.

Prevent

Estimating the risk of developing hereditary cancer provides the person a chance to be proactive about their health by taking preventative measures and/or undergoing routine monitoring.

IMPORTANCE OF GETTING TESTED

If you or a family member has a predicted high risk of developing cancer, certain actions can be taken to reduce the likelihood of developing the cancer. Additionally, family members can be informed and encouraged to have a test or strategies can be implemented for routing monitoring.

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You have relatives diagnosed with
cancer at a young age <50 years.

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You have a strong family history of
the same or multiple different
cancer types.

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You have been diagnosed with
cancer and would like to know if
there is a genetic case.

POSSIBLE OUTCOMES OF THE TEST

A diagnostic report outlining the results of the sequencing analysis.

Changes in DNA sequences (variants) can be detrimental and eventually lead to cancer development. Pathogenic or likely pathogenic variants in cancer-associated genes are reported.

Please note that if pathogenic variants are not identified, this does not preclude the possibility of developing cancer from unknown genetic factors or sporadic causes.

MEDICAL GENETIC COUNSELLING

We provide expert medical genetic counselling as part of a genetic testing journey. Genetic counselling is a process of communication that supports patients and their relatives before and after genetic testing. It is educational, impartial and nondirective. Prior to any genetic test, genetic counsellors will obtain a detailed family history, explain the method of testing that will be used, its risks and benefits, the limitations of the diagnosis and the implications of making a genetic diagnosis (Elliott and Friedman, 2018, Nat Rev Genet 19:735).

Upon receiving the genetic test results, genetic counselling can help the specialist physician and the patient to interpret them. They can be advised of the consequences of the results including the probability of developing the genetic disorder or passing it on to children, as well as ways to prevent, avoid or reduce these risks (Yang and Kim, 2018, Ann Lab Med 38:291). Our goal of counselling is to provide the patient with greater knowledge and thus, a better understanding of the results and the ability to make a more informed decision.

OUR HEREDITARY CANCER PANELS

54
genes

Comprehensive Hereditary Cancer Panel

14
genes

Skin cancer

14
genes

Nervous System/
Brain Cancer

Up to 27
genes

Breast cancer

11
genes

Renal Diseases

Up to 27
genes

Reproductive

14
genes

Endocrine
tumors

20
genes

Gastrointestinal
tumors

15
genes

Pancreatic
tumors

Up to
21
genes

Colon
Cancer

11
genes

Prostate cancer

Cross-Organ-Panels

21
genes

Fanconi
Anemia

7
genes

Unspecific Tumor
Syndromes

ACCEPTED MATERIAL

1 ml EDTA Blood

TURNAROUND TIME

15-25 working days

TECHNOLOGY

DNA is isolated and next generation sequencing is performed on all coding exons and conserved intronic regions. Single base pair changes, small deletions and duplications and copy number variants (CNV) are identified. Sequencing runs result in a Quality Score of >30 (accuracy >99.9%) in at least 75% of all bases with a coverage of >20-fold. CNV detection sensitivity is 76.99% and precision is 62.59% (with GC limitation between 0.4 and 0.6 per target sensitivity is 77.04% and precision is 84.10%). Variant classification is performed following ACMG guidelines (Richards et al. 2015, Genet Med 17:405; Kearney et al. 2011, Genet Med 13:680).

TEST METHODOLOGY
Sequencing

Next generation
sequencing (Illumina)

Enrichment

Twist Human Core
Exome plus Ref Seq
Spikeln

SNV and CNV data anlaysis

Illumina DRAGEN
Bio-IT Platform

Data Evaluation

VarSeq by
GoldenHelix

Reference Genome

hg38, NCBI GR38

Quality Criteria

>30 (precision >99,9%)
in min. 75% of bases

SNV detection sensitivity

99.92-99.93%; confirmation of reported SNV with Sanger
sequencing, data analysis with
SeqPilot

Classification of variants

Richards et al. 2015, Genet Med
17:405; Ellard et al. "ACGS Best
Practice Guidelines for Variant
Classification 2020"

in silico algorithms

MaxEntScan,
SpliceSiteFinder-like,
REVEL

Databases

HGMD Professional
release, ClinVar,
gnomAD

OUR TESTS

BREAST AND OVARIAN CANCER - BRCA1, BRCA2

Genes: BRCA1, BRCA2

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BREAST AND OVARIAN CANCER – core panel

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MLH3, MSH2, MSH3, MSH6, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53

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BREAST AND OVARIAN CANCER – extended panel

Genes: ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MRE11A, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RECQL, SMARCA4, SMARCB1, STK11, TP53, XRCC2

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CENTRAL NERVOUS SYSTEM/BRAIN TUMORS

Genes: AIP, NF1, NF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, LZTR1, SMARCE1, TP53, VHL

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COLON CANCER – core panel

Genes: APC, BMPR1A, EPCAM*, GREM1*, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11

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COLON CANCER – extended panel

Genes: APC, AXIN, BMPR1A, EPCAM, GALNT12, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RNF43, RPS20, SMAD4, STK11

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COMPREHENSIVE HEREDITARY CANCER PANEL

Genes: APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FH, FLCN, GREM1, MAX, MEN1, MET, MITF, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, POT1, PTCH1, PTEN, RAD51C, RAD51D, RET, RNF43, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11, SUFU, TMEM127, TP53, VHL

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ENDOCRINE TUMORS

Genes: AIP, CDC73, CDKN1B, MAX, MEN1, PTEN, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, VHL

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FANCONI ANEMIA

Genes: BRCA1, BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MAD2L2, PALB2, RAD51, RAD51C, RFWD3, SLX4, UBE2T, XRCC2

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GASTROINTESTINAL TUMORS

Genes: APC, BMPR1A, CDH1, CTNNA1, EPCAM*, KIT, MLH1, MSH2, MSH6, MUTYH, PDGFRA, PMS2, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, STK11

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KIDNEY CANCERS

Genes: BAP1, FH, FLCN, MET, PTEN, SDHA, SDHAF2, SDHB, SDHC, SDHD, VHL

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NERVOUS SYSTEM/BRAIN TUMORS

Genes: AIP, NF1, NF2, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMARCA4, SMARCB1, LZTR1, SMARCE1, TP53, VHL

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PANCREATIC TUMORS

Genes: ATM, BRCA1, BRCA2, CDKN1B, CDKN2A, EPCAM*, MLH1, MEN1, MSH2, MSH6, PALB2, PMS2, STK11, TP53, VHL

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PROSTATE CANCER

Genes: ATM, BRCA1, BRCA2, CHEK2, EPCAM*, HOXB13, MLH1, MSH2, MSH6, PALB2, PMS2

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SKIN TUMORS

Genes: BAP1, CDK4, CDKN2A, MITF, MLH1, MSH2, MSH6, NF1, PMS2, POT1, PTCH1, PTCH2, PTEN, SUFU

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UNSPECIFIC TUMOR SYNDROMES

Genes: BAP1, CDKN1B, DICER1, NF1, PTEN, STK11, TP53

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OUR NETWORK