PreSENTIA hereditary cancer test panels can detect numerous inherited genetic changes (mutations) that could cause cancer in the future.

PreSENTIA offers an extensive portfolio of 19 hereditary cancer test panels. Each panel focuses on a set of genes that determine someone’s chances of developing a specific cancer in the future. The genetic changes in the genes that could cause cancer are inherited from parents to their children, and are present from birth. Knowing that a person carries one of these genetic mutations can help them take preventative measures and plan a more informed clinical management. As a result, early detection of cancer can be achieved – which increases the chances of successful treatment – or prevention.

WHAT IS CANCER?

Cancer is the rapid and uncontrollable growth of abnormal cells. It is the second leading cause of death, responsible for 1 out of 6 deaths globally. World Health Organization (WHO) recommends that cancer mortality can be significantly reduced by early detection and proper clinical management of cancers.

HOW DOES CANCER DEVELOP?

Cancer develops after certain genes that are responsible for keeping our body healthy undergo changes that cause them to become ‘faulty’. A cancer can be:

SPORADIC: Mutations in the genes causing cancer accumulate over time due to risk factors like tobacco, viruses (such as HPV), and environmental factors. These mutations cannot be inherited.

HEREDITARY: These mutations exist from birth. They run in families and can be passed down from parents to their children.

Inherited genetic mutations make up for 5-10% of all cancers.

WHAT SHOULD I ASK MY DOCTOR?

What are germline mutations?

Germline mutations are changes in the DNA that are inherited from parents to their children. These changes are present from birth in all the cells in the body. People with germline mutations in a cancer gene have a higher chance of developing cancer in their lifetime. If cancer develops due to a germline mutation, it is called hereditary cancer.

What is a hereditary screening test?

A hereditary screening test checks if an individual has an inherited gene mutation in a gene with high cancer susceptibility.

If you or a family member were diagnosed with hereditary cancer, or a genetic change that is linked to cancer, there's a high chance other members of your family carry the genetic change as well. Each individual could be affected by cancer at different age, with wide range of severity, and by different cancer types.

WHO IS THIS TEST FOR?

Identifying the genetic change that could cause cancer in the future is useful for people with cancer in their family history, and for people suspected of having a hereditary form of cancer. This knowledge can help with better medical planning, avoiding risk factors and informing family members of their risk.

According to genetic testing guidelines* for cancer, people who might benefit from genetic testing are those that have:

  • Family members with cancer in the same side of the family
  • Multiple cancers in the same family member
  • Family members with early cancer onset
  • Family members with rare cancer types
  • A family member that has been diagnosed with a genetic mutation that has cancer susceptibility
  • Personal or family history of a hereditary cancer syndrome

Your healthcare provider will also take into account your medical family history, ethnicity and any physical findings present linked to cancer before recommending PreSENTIA to you.

* Data adapted from: American Cancer Society, National Cancer Institute, American Society of Clinical Oncology and American College of Obstetricians and Gynecologists.

HOW DOES PreSENTIA HELP ME?

PreSENTIA panels test for numerous genetic changes that are responsible for causing hereditary cancers. If you want to know more about your cancer risks, or if you have been already diagnosed with cancer and you want to know whether your cancer is hereditary, PreSENTIA can help.

  • Targeted cancer monitoring – recommended screening tests at key time intervals to detect cancer early, when treatment is more beneficial
  • Prevention of cancer by prophylactic measures
  • Actionable information for family members that might carry the same gene
  • Improved classification of the disease for better clinical management
  • Drug therapy (chemoprevention)

WHY CHOOSE THE PreSENTIA TEST?

  • Assesses clinically important mutations
  • Ability to select the best panel for you
  • Reliable technology
  • Short turn-around time
  • Safe and easy to perform

WHAT ARE ‘HEREDITARY CANCER SYNDROMES’?

Hereditary cancer syndromes are also known as cancer predisposing syndromes, as patients with these syndromes have an elevated risk of developing specific cancers in the future. These conditions occur when genes with critical roles in keeping our body healthy are mutated, causing a variety of symptoms and potentially affecting the quality of life. They can be inherited from one generation to the other.

Hereditary cancer syndromes characteristics

  • Multiple cancer types
  • Repeated cancers
  • Young age of cancer onset

If you have cancer in your family history and want to know about your own risk, PreSENTIA can help. By identifying the mutated genes that could cause hereditary cancer syndromes, PreSENTIA can provide information that could help in clinical management. If you have been diagnosed with cancer and have any of the above characteristics, you might also have a hereditary cancer syndrome. Identifying this can help reveal how and why your cancer was caused.

HOW ACCURATE IS IT?

TARGETED TECHNOLOGY

By focusing only on the genetic changes tested, PreSENTIA is accurate and precise.

HIGH READ DEPTH

PreSENTIA analyzes the locations of the genetic changes hundreds of times, making the test results more sensitive and reliable.

WHAT DOES IT TEST FOR?

HEREDITARY CANCER PANELS

  • BREAST & GYNECOLO­GICAL

    26

    HEREDITARY BREAST/GYNECOLOGICAL CANCER PANEL

    Description

    Hereditary Breast/Gynecological cancer panel tests for numerous germline mutations that could cause Breast, Ovarian or Endometrial cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for breast/gynaecological cancers are those that have:

    • Several family members in the same side of the family with cancer
    • Family members with early cancer onset
    • Family members with rare cancer types
    • A family member with multiple cancers
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • Personal history of previous malignancies

    No of Genes Tested

    26

    No of related hereditary cancer syndromes

    12

    Genes Tested

    ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMARCA4, STK11, TP53

    Disorders associated with this panel:

    • Ataxia-telangiectasia syndrome (ATM)
    • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
    • DICER 1 syndrome (DICER1)
    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Hereditary diffuse gastric syndrome (CDH1)
    • Li-Fraumeni syndrome (TP53)
    • Li-Fraumeni syndrome 2 (CHEK2)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • MUTYH-associated polyposis syndrome (MUTYH)
    • Peutz-Jeghers syndrome (STK11)
    • Polymerase proofreading associated syndrome (POLD1, POLE)
    • PTEN hamartoma syndrome (PTEN)

    The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

    BARD1, BRIP, MRE11, NBN, PALB2, RAD50, RAD51C, RAD51D, SMARCA4

  • BREAST / GYN GUIDELINES - BASED

    19

    HEREDITARY BREAST/GYNECOLOGICAL GUIDELINES-BASED CANCER PANEL

    Description

    Hereditary Breast/Gynecological cancer guidelines-based panel tests for numerous germline mutations that could cause Breast, Ovarian, Endometrial or associated cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary cancers are those that have:

    • Several family members in the same side of the family with cancer
    • Multiple cancers in the same family member
    • Family members with early cancer onset
    • Family members with rare cancer types
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    19

    No of related hereditary cancer syndromes

    9

    Genes Tested

    ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, TP53, STK11

    Disorders associated with this panel:

    • Ataxia telangiectasia syndrome (ATM)
    • Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Hereditary diffuse gastric syndrome (CDH1)
    • Li-Fraumeni syndrome (TP53)
    • Li-Fraumeni syndrome 2 (CHEK2)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Peutz-Jeghers syndrome (STK11)
    • PTEN Hamartoma syndrome (PTEN)

    The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

    BARD1, BRIP, NBN, PALB2, RAD51C, RAD51D

  • BREAST
    HIGH-RISK

    7

    HEREDITARY BREAST HIGH-RISK CANCER PANEL

    Description

    Hereditary Breast High-Risk cancer panel tests for numerous germline mutations that are associated with a high risk for developing Breast, Ovarian, Endometrial or associated cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary cancers are those that have:

    • Several family members in the same side of the family with cancer
    • Multiple cancers in the same family member
    • Family members with early cancer onset
    • Family members with rare cancer types
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    7

    No of related hereditary cancer syndromes

    5

    Genes Tested

    BRCA1, BRCA2, CDH1, PALB2, PTEN, STK11, TP53

    Disorders associated with this panel:

    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Hereditary diffuse gastric syndrome (CDH1)
    • Li-Fraumeni syndrome (TP53)
    • Peutz-Jeughers syndrome (STK11)
    • PTEN hamartoma syndrome (PTEN)

    The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

    PALB2

  • BRCA1 / BRCA2

    2

    HEREDITARY BRCA1 / BRCA2 CANCER PANEL

    Description

    Hereditary BRCA1/BRCA2 cancer panel tests for germline mutations in the BRCA1 and BRCA2 genes that could cause specific cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary cancers caused by mutations in the BRCA1/BRCA2 genes are those that have:

    • Several family members with cancer in the same side of the family
    • Multiple cancers in the same family member
    • Family members with early cancer onset
    • Family members with rare cancer types
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    2

    No of related hereditary cancer syndromes

    1

    Genes Tested

    BRCA1, BRCA2

    Disorders associated with this panel:

    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)

  • COLORECTAL

    17

    HEREDITARY COLORECTAL CANCER PANEL

    Description

    Hereditary Colorectal cancer panel tests for numerous germline mutations that could cause colorectal cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary cancers are those that have:

    • At least 1 first-degree family member with colorectal cancer
    • Personal or family history of colorectal polyps or colorectal cancer
    • Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
    • Family members diagnosed with cancer at a young age
    • Family members diagnosed with rare forms of cancer
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • Personal history of previous malignancies

    No of Genes Tested

    17

    No of related hereditary cancer syndromes

    12

    Genes Tested

    APC, BMPR1A, CDH1, CHEK2, EPCAM, GREM1, MLH1, MSH2, MSH6, MUTYH, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53

    Disorders associated with this panel:

    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Li-Fraumeni syndrome (TP53)
    • Li-Fraumeni syndrome 2 (CHEK2)
    • PTEN Hamartoma syndrome (PTEN)
    • Peutz-Jeghers syndrome (STK11)
    • Hereditary diffuse gastric syndrome (CDH1)
    • MUTYH-associated polyposis syndrome (MUTYH)
    • Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
    • Polymerase Proofreading Associated syndrome (POLD1, POLE)
    • Hereditary mixed polyposis syndrome (GREM1)
    • Juvenile Polyposis syndrome (SMAD4, BMPR1A)
    • Constitutional Mismatch Repair syndrome (MSH2, MSH6, MLH1, PMS2)

  • COLORECTAL
    HIGH-RISK

    10

    HEREDITARY COLORECTAL HIGH-RISK CANCER PANEL

    Description

    Hereditary Colorectal High-Risk cancer panel tests for numerous germline mutations that could cause colorectal cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary colorectal cancers are those that have:

    • At least 1 first-degree family member with colorectal cancer
    • Personal or family history of colorectal polyps or colorectal cancer
    • Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
    • Family members diagnosed with cancer at a young age
    • Family members diagnosed with rare forms of cancer
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    10

    No of related hereditary cancer syndromes

    6

    Genes Tested

    APC, BMPR1A, EPCAM, MLH1, MSH2, MSH6, MUTYH, PMS2, SMAD4, STK11

    Disorders associated with this panel:

    • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Juvenile polyposis syndrome (SMAD4, BMPR1A)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • MUTYH-associated polyposis syndrome (MUTYH)
    • Peutz-Jeghers syndrome (STK11)

  • COLORECTAL
    NON-POLYPOSIS

    5

    HEREDITARY COLORECTAL NON-POLYPOSIS CANCER PANEL

    Description

    Hereditary Colorectal Non-Polyposis cancer panel tests for numerous germline mutations that could cause colorectal cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary colorectal cancers are those that have:

    • At least 1 first-degree family member with colorectal cancer
    • Personal or family history of colorectal polyps or colorectal cancer
    • Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
    • Family members diagnosed with cancer at a young age
    • Family members diagnosed with rare forms of cancer
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    5

    No of related hereditary cancer syndromes

    2

    Genes Tested

    EPCAM, MLH1, MSH2, MSH6, PMS2

    Disorders associated with this panel:

    • Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

  • COLORECTAL POLYPOSIS SYNDROME

    7

    HEREDITARY COLORECTAL POLYPOSIS CANCER PANEL

    Description

    Hereditary Colorectal Polyposis cancer panel tests for numerous germline mutations that could cause colorectal cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary polyposis colorectal cancers are those that have:

    • At least 1 first-degree family member with colorectal cancer
    • Personal or family history of colorectal polyps or colorectal cancer
    • Personal history of a confirmed or suspected hereditary colorectal cancer syndrome
    • Family members diagnosed with cancer at a young age
    • Family members diagnosed with rare forms of cancer
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    7

    No of related hereditary cancer syndromes

    5

    Genes Tested

    APC, BMPR1A, MUTYH, POLD1, POLE, SMAD4,STK11

    Disorders associated with this panel:

    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Juvenile polyposis syndrome (SMAD4, BMPR1A)
    • MUTYH-associated polyposis syndrome (MUTYH)
    • Peutz-Jeghers syndrome (STK11)
    • Polymerase proofreading associated syndrome (POLD1, POLE)

  • MYELODYSPLASTIC SYNDROME/LEUKEMIA

    24

    HEREDITARY MYELODYSPLASTIC SYNDROME / LEUKEMIA CANCER PANEL

    Description

    Hereditary Myelodysplastic syndrome / Leukemia cancer panel tests for numerous germline mutations that could cause blood cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary myelodysplastic syndromes or leukemias are those that have:

    • Family history of a hereditary cancer syndrome associated with leukemia
    • Personal history of a hereditary cancer syndrome associated with leukemia
    • An identical twin who developed leukemia in the first year of life
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    24

    No of related hereditary cancer syndromes

    6

    Genes Tested

    ATM, BRCA1, BRCA2, BRIP1, EPCAM, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, MLH1, MSH2, MSH6, PALB2, PMS2, RAD51C, SLX4, TP53

    Disorders associated with this panel:

    • Ataxia-telangiectasia syndrome (ATM)
    • Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Fanconi anemia syndrome (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C)
    • Hereditary breast & ovarian syndrome (BRCA1 & BRCA2)
    • Li-Fraumeni syndrome (TP53)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)

  • GASTRIC

    14

    HEREDITARY GASTRIC CANCER PANEL

    Description

    Hereditary Gastric cancer panel tests for numerous inherited germline mutations that could cause gastric (stomach) cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for gastric cancers are those that have:

    • Several family members in the same side of the family with gastric cancer
    • Personal or family history of a hereditary cancer syndrome linked to gastric cancer
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    14

    No of related hereditary cancer syndromes

    8

    Genes Tested

    APC, BMPR1A, CDH1, EPCAM, MLH1, MSH2, MSH6, PMS2, SDHB, SDHC, SDHD, SMAD4, STK11, TP53

    Disorders associated with this panel:

    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
    • Hereditary diffuse gastric syndrome (CDH1)
    • Hereditary Paraganglioma-Pheochromocytoma syndrome (SDHB, SDHC, SDHD)
    • Juvenile Polyposis syndrome (SMAD4, BMPR1A)
    • Li-Fraumeni syndrome (TP53)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Peutz-Jeghers syndrome (STK11)

  • PROSTATE

    15

    HEREDITARY PROSTATE CANCER PANEL

    Description

    Hereditary Prostate cancer panel tests for numerous germline mutations that could cause prostate cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary colorectal cancers are those that have:

    • Several first-degree family members with prostate cancer
    • Family members diagnosed with prostate cancer at young age
    • Family members diagnosed with other cancer types, including breast, ovarian and pancreatic
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    15

    No of related hereditary cancer syndromes

    6

    Genes Tested

    ATM, BRCA1, BRCA2, CHEK2, EPCAM, HOXB13, MLH1, MSH2, MSH6, NBN, PALB2, PMS2, PTEN, RAD51D, TP53

    Disorders associated with this panel:

    • Ataxia-telangiectasia syndrome (ATM)
    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Li-Fraumeni syndrome (TP53)
    • Li-Fraumeni syndrome 2 (CHEK2)
    • Lynch syndrome (MLH1, MSH2, MSH6, PMS2, EPCAM)
    • PTEN hamartoma syndrome (PTEN)

    The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

    HOXB13, NBN, PALB2, RAD51D

  • PANCREATIC

    17

    HEREDITARY PANCREATIC CANCER PANEL

    Description

    Hereditary Pancreatic cancer panel tests for numerous germline mutations that could cause pancreatic cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for pancreatic cancers are those that have:

    • Several family members in the same side of the family with pancreatic cancer
    • First-degree relative who developed pancreatic cancer before the age of 50
    • Personal or family history of a hereditary cancer syndrome linked to pancreatic cancer
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    17

    No of related hereditary cancer syndromes

    10

    Genes Tested

    APC, ATM, BRCA1, BRCA2, BMPR1A, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), EPCAM, MEN1, MLH1, MSH2, MSH6, PALB2, PMS2, SMAD4, STK11, TP53

    Disorders associated with this panel:

    • Ataxia-telangiectasia syndrome (ATM)
    • Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)
    • Juvenile polyposis syndrome (SMAD4, BMPR1A)
    • Li-Fraumeni syndrome (TP53)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Multiple endocrine neoplasia type 1 (MEN1)
    • Peutz-Jeghers syndrome (STK11)

  • RENAL

    13

    HEREDITARY RENAL CANCER PANEL

    Description

    Hereditary Renal cancer panel tests for numerous germline mutations that could cause renal (kidney) cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary renal cancers are those that have:

    • Family members that have had renal cancer, especially at a young age
    • Family members with renal cancer in both kidneys
    • Family members diagnosed with a hereditary cancer syndrome associated with renal cancer
    • Personal history of a hereditary cancer syndrome associated with renal cancer
    • Multiple cancers in the same family member
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    13

    No of related hereditary cancer syndromes

    7

    Genes Tested

    BAP1, EPCAM, MLH1, MSH2, MSH6, PMS2, PTEN, SDHAF2, SDHB, SDHC, SDHD, TP53, VHL

    Disorders associated with this panel:

    • BAP1 mutation associated disease (BAP1)
    • Constitutional mismatch repair syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHAF2, SDHB, SDHC, SDHD)
    • Li-Fraumeni syndrome (TP53)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • PTEN hamartoma syndrome (PTEN)
    • Von-Hippel Lindau syndrome (VHL)

  • SKIN (XP-ASSOCIATED)

    9

    HEREDITARY SKIN (XP-ASSOCIATED) CANCER PANEL

    Description

    Hereditary Xeroderma Pigmentosum-related cancer panel tests for numerous germline mutations that could cause skin cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for Xeroderma Pigmentosum-related skin cancers are those that have:

    • Family or personal history of a hereditary cancer syndrome associated with skin cancers
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    9

    No of related hereditary cancer syndromes

    1

    Genes Tested

    DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC

    Disorders associated with this panel:

    • Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)

  • FAMILIAL MELANOMA

    7

    HEREDITARY FAMILIAL MELANOMA CANCER PANEL

    Description

    Hereditary Familial Melanoma cancer panel tests for numerous germline mutations that could cause familial melanoma skin cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary melanoma cancers are those that have:

    • At least two first-degree family member who have had metastatic melanoma
    • At least one family member has had multiple melanomas
    • Family or personal history of a hereditary cancer syndrome associated with melanoma
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    7

    No of related hereditary cancer syndromes

    5

    Genes Tested

    BAP1, BRCA2, CDK4, CDKN2A (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), PTEN, RB1, TP53

    Disorders associated with this panel:

    • BAP1 mutation associated disease (BAP1)
    • Hereditary pancreatic-melanoma syndrome (CDKN2A, CDK4)
    • Li-Fraumeni syndrome (TP53)
    • PTEN hamartoma syndrome (PTEN)
    • Retinoblastoma (RB1)

  • PARAGANGLI­OMA / PHEOCHROMOCYTOMA

    6

    HEREDITARY PARAGANGLIOMA / PHEOCHROMOCYTOMA CANCER PANEL

    Description

    Hereditary Paraganglioma / Pheochromocytoma cancer panel tests for germline mutations in numerous genes that could cause Paraganglioma or Pheochromocytoma cancer in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for Paraganglioma or Pheochromocytoma cancers are those that have:

    • Family or personal history of a hereditary cancer syndrome associated with paraganglioma / pheochromocytoma cancers
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    6

    No of related hereditary cancer syndromes

    3

    Genes Tested

    RET, SDHAF2, SDHB, SDHC, SDHD, VHL

    Disorders associated with this panel:

    • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHAF2, SDHB, SDHD, SDHC)
    • Multiple endocrine neoplasia type 2 (RET)
    • Von-Hippel Lindau syndrome (VHL)

  • PARATHYROID

    1

    HEREDITARY PARATHYROID CANCER PANEL

    Description

    Hereditary Parathyroid cancer panel tests for germline mutations in the MEN1 gene that could cause parathyroid cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for parathyroid cancers are those that have:

    • At least two first-degree family member who have had parathyroid tumors
    • A personal or family history of a hereditary cancer syndrome associated with parathyroid cancer
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    1

    No of related hereditary cancer syndromes

    1

    Genes Tested

    MEN1

    Disorders associated with this panel:

    • Multiple endocrine neoplasia type 1 (MEN1)

  • THYROID

    1

    HEREDITARY THYROID CANCER PANEL

    Description

    Hereditary Thyroid cancer panel tests for germline mutations in the RET gene that could cause medullary thyroid cancer in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for parathyroid cancers are those that have:

    • At least one first-degree family member who has had thyroid cancer
    • A personal or family history of a hereditary cancer syndrome associated with thyroid cancer
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility

    No of Genes Tested

    1

    No of related hereditary cancer syndromes

    1

    Genes Tested

    RET

    Disorders associated with this panel:

    • Multiple endocrine neoplasia type 2 (RET)

  • PAN-CANCER

    62

    HEREDITARY PAN-CANCER PANEL

    Description

    Hereditary Pan-Cancer panel tests for numerous germline mutations in a total of 62 genes that could cause several cancers in the future. Identifying germline mutations associated with cancer susceptibility empowers healthcare providers and patients, as it allows them to take better and more informed decisions.

    Who is this test for?

    According to genetic testing guidelines, people who might benefit from genetic testing for hereditary cancers are those that have:

    • Several family members in the same side of the family with cancer
    • Multiple cancers in the same family member
    • Family members with early cancer onset
    • Family members with rare cancer types
    • Family members with an unusual type of cancer (breast cancer in a male)
    • Personal or family history of a hereditary cancer syndrome
    • A family member that has been diagnosed with a germline mutation associated with cancer susceptibility
    • History of previous malignancies

    No of Genes Tested

    62

    No of related hereditary cancer syndromes

    24

    Genes Tested

    APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, (CDKN2Ap16(INK4A), CDKN2Ap14(ARF)), CHEK2, DDB2, DICER1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GREM1, HOXB13, MEN1, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, POLH, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, STK11, TP53, VHL, XPA, XPC

    Disorders associated with this panel:

    • Ataxia-telangiectasia syndrome (ATM)
    • BAP1 mutation associated disease (BAP1)
    • Constitutional mismatch repair syndrome (EPCAM, MSH2, MSH6, MLH1, PMS2)
    • DICER 1 syndrome (DICER1)
    • Familial Adenomatous Polyposis / Attenuated Familial Adenomatous Polyposis (APC)
    • Fanconi anemia syndrome (FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C)
    • Hereditary breast & ovarian cancer syndrome (BRCA1, BRCA2)
    • Hereditary diffuse gastric syndrome (CDH1)
    • Hereditary mixed polyposis syndrome (GREM1)
    • Hereditary melanoma-pancreatic cancer syndrome (CDKN2A, CDK4)
    • Hereditary Paraganglioma – Pheochromocytoma syndrome (SDHD, SDHAF2, SDHC, SDHB)
    • Juvenile polyposis syndrome (SMAD4, BMPR1A)
    • Li-Fraumeni syndrome (TP53)
    • Li-Fraumeni syndrome 2 (CHEK2)
    • Lynch syndrome (EPCAM, MLH1, MSH2, MSH6, PMS2)
    • Multiple endocrine neoplasia type 1 (MEN1)
    • Multiple endocrine neoplasia type 2 (RET)
    • MUTYH-associated polyposis syndrome (MUTYH)
    • Peutz-Jeghers syndrome (STK11)
    • Polymerase proofreading associated syndrome (POLD1, POLE)
    • PTEN hamartoma syndrome (PTEN)
    • Retinoblastoma (RB1)
    • Von-Hippel Lindau syndrome (VHL)
    • Xeroderma Pigmentosum syndrome (DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC)

    The following genes are not linked with a hereditary cancer syndrome but are associated with cancer risk, and are also analyzed by this panel:

    BARD1, MRE11, RAD50, SMARCA4, HOXB13, NBN, RAD51D

  • Hereditary Cancer Syndromes
    Renal, Paragangliomas, Pheochromocytomas
    Cancer Predisposing Syndromes & Associated Genes Associated Cancers
    Li-Fraumeni syndrome
    TP53     		Breast, Ovarian, Prostate, Pancreatic, Colorectal, Gastric, Renal, Sarcomas, Brain, Lung, Leukemia
    Li-Fraumeni syndrome 2
    CHEK2     		Breast, Sarcoma, Brain
    Hereditary breast and ovarian cancer syndrome
    BRCA1, BRCA2     		Breast, Ovarian, Prostate, Pancreatic, Melanoma, Gastric, Esophagus
    Familial adenomatous polyposis/Attenuated familial adenomatous polyposis syndrome
    APC     		Gastric, Pancreatic, Colorectal, Osteomas, Small Bowel
    MUTYH-associated polyposis syndrome
    MUTYH     		Colorectal
    Lynch syndrome
    MLH1, MSH2, MSH6, PMS2, EPCAM     		Colorectal, Endometrial, Gastric, Ovarian, Prostate, Pancreatic, Renal
    PTEN hamartoma syndrome
    PTEN     		Breast, Endometrial, Colorectal, Melanoma, Renal
    Peutz-Jeghers syndrome
    STK11     		Breast, Ovarian, Endometrial, Colorectal, Gastric, Pancreatic
    Juvenile polyposis syndrome
    SMAD4, BMPR1A     		Colorectal, Gastric, Pancreatic
    Fanconi anemia syndrome
    FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, SLX4, ERCC4, BRCA1, BRCA2, BRIP1, PALB2, RAD51C     		Leukemia, Tumors of the head & neck, Gastrointestinal
    Von-Hippel Lindau syndrome
    VHL     		Renal, Paragangliomas, Pheochromocytomas
    Retinoblastoma
    RB1     		Eye, Bone, Uveal Melanoma
    Xeroderma pigmentosum syndrome
    DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA,XPC     		Non-Melanoma & Melanoma
    Hereditary melanoma-pancreatic cancer syndrome
    CDKN2A, CDK4     		Melanoma, Pancreatic
    Hereditary diffuse gastric syndrome
    CDH1     		Gastric & Breast
    DICER 1 syndrome
    DICER1     		Lung, Renal, Ovarian, Thyroid
    Polymerase Proofreading Associated syndrome
    POLD1, POLE     		Colorectal & Endometrial
    Multiple Endocrine Neoplasia (MEN) syndrome type 1
    MEN1     		Parathyroid & Pancreatic
    Multiple Endocrine Neoplasia (MEN) syndrome type 2
    RET     		Thyroid & Pheochromocytoma
    BAP1 Mutation associated disease
    BAP1     		Skin, Eye, Renal, Mesothelioma
    Ataxia-telangiectasia syndrome
    ATM     		Leukemia & Lymphoma
    Hereditary-mixed polyposis syndrome
    GREM1     		Colorectal
    Constitutional mismatch repair syndrome
    MSH2, MSH6, MLH1, PMS2     		Hematologic malignancies, Brain, Gastrointestinal, Colorectal
    Hereditary Paraganglioma – Pheochromocytoma syndrome
    SDHAF2, SDHB, SDHC, SDHD     		Renal, Thyroid, Paragangliomas, Pheochromocytomas

HOW CAN I TAKE PreSENTIA?

  • CONSULT WITH YOUR HEALTHCARE PROVIDER ON WHICH PANEL IS IDEAL FOR YOU
  • YOUR DOCTOR WILL COLLECT A BUCCAL SWAB SAMPLE FROM YOU
  • THE SAMPLE WILL BE SENT TO OUR LABORATORY
  • THE SAMPLE WILL BE ANALYZED IN OUR LABORATORY
  • RESULTS WILL BE SENT TO YOUR HEALTHCARE PROVIDER WITHIN 2-3 WEEKS

FAQ

  • What are mutations?

    A mutation is a change that happens in the DNA that could possibly affect the health of an individual.

  • What is genetic testing?

    Genetic testing identifies changes in the DNA.

  • What is cancer susceptibility and cancer predisposition?

    Cancer susceptibility, or predisposition, is the likelihood of being affected by cancer in the future. This depends on an individual’s DNA. There are certain inherited, genetic changes that raise someone’s risk of developing cancer in the future. This is because these changes happen in genes that are responsible for protecting the body from disease, and when they are affected, their protective role halts.

  • What are germline mutations?

    Germline mutations are changes in the DNA that are inherited from parents to their children. These changes are present from birth in all the cells in the body. Germline mutations are different from somatic mutations, which occur when a genetic change happens in the DNA due to exposure to risk factors – after a person is born. People with germline mutations in a cancer gene have a higher chance of developing cancer in their lifetime. If cancer develops due to a germline mutation, it is called hereditary cancer.

  • What is hereditary screening?

    A hereditary screening test checks if an individual has an inherited, genetic change in a gene with high cancer susceptibility from birth. Identifying the mutation that could cause cancer in the future is useful for people with cancer in their family history, and for people suspected of having a hereditary form of cancer. This knowledge can help with better medical planning and avoiding risk factors.

  • How do I decide what is the best panel for me?

    Your healthcare provider will recommend the best panel for you after considering the types of cancers that have affected your family members, any genetic changes that have already been diagnosed in one of your family members, and any symptoms exhibited. Consult with your healthcare provider on which panel is ideal.

NIPD Genetics - Privacy Policy

General Statement

This Privacy Policy applies only to www.nipd.com and its subdomains (hereafter collectively referred to as “Sites") that link to this policy. NIPD Genetics Sites are owned by NIPD Genetics Public Company Ltd and are operated by NIPD Genetics Public Company Ltd and on occasion by a third-party that is responsible for the technical maintenance of the Sites.

If, you do not agree with this Privacy Policy, please do not access or use any of NIPD Genetics Sites.

NIPD Genetics values your interest in NIPD Genetics, its products and its services. NIPD Genetics takes the protection of your data seriously.

Personal data for purposes of this Privacy Policy, is any information by which you can be individually identified, including, but not limited to, your name, profession, address, e-mail address, and telephone number.

You may contact NIPD Genetics Public Company Ltd at
NIPD Genetics Public Company Ltd
Neas Engomis 31
Engomi, Nicosia
2409, Cyprus

NIPD Genetics Data Protection Officer can be reached at dpo@nipd.com

This Privacy Policy applies only to the Sites as defined above and which are operated by NIPD Genetics. The NIPD Genetics Privacy Policy seeks to inform the users of its Sites of the following:

NIPD Genetics will not use or share your information with anyone, except as described in this Privacy Policy. This Privacy Policy does not apply to any information we might collect by other digital and offline means and or from other digital and offline sources. The use of information collected through our Sites shall be limited to the purposes under this Privacy Policy and our Terms of Use to customers.

This page informs you of our policies regarding the collection, use, and disclosure of personal data when you use our Sites and the choices you have associated with that data.

We use your data to provide and improve the Sites. By using the Sites, you agree to the collection and use of information in accordance with this policy. Unless otherwise defined in this Privacy Policy, terms used in this Privacy Policy have the same meanings as in our Terms and Conditions, accessible from www.nipd.com

Type of personal information NIPD Genetics may collect through its Sites

Information Collection And Use

We collect several different types of information for various purposes to provide and improve our Sites and services to you.

Personal Data

While using NIPD Genetics Sites, you may be asked to provide NIPD Genetics certain personally identifiable information that can be used to contact or identify you ("Personal Information"). Personal Information that might be used to identify you includes, but is not limited to:

If you send us a query via our Contact us form, your email address, the content and any follow up emails are retained indefinitely.

Cookies and Usage Data

Usage Data

We may also collect information how the Sites are accessed and used ("Usage Data"). This Usage Data may include information such as your computer's Internet Protocol address (e.g. IP address), browser type, browser version, the pages of our Sites that you visit, the time and date of your visit, the time spent on those pages, unique device identifiers and other diagnostic data.

Tracking & Cookies Data

We use cookies and similar tracking technologies to track the activity on our Sites and hold certain information.

Cookies are files with small amount of data which may include an anonymous unique identifier. Cookies are sent to your browser from a website and stored on your device. Tracking technologies also used are beacons, tags, and scripts to collect and track information and to improve and analyze our Sites.

You can instruct your browser to refuse all cookies or to indicate when a cookie is being sent. However, if you do not accept cookies, you may not be able to use some portions of our Sites.

Examples of Cookies we use:

Session Cookies. We use Session Cookies to operate our Sites.

Preference Cookies. We use Preference Cookies to remember your preferences and various settings.

Security Cookies. We use Security Cookies for security purposes.

Visitor behavior cookies. To understand how visitors use and navigate the Sites

Keyword cookies. To understand how visitors discover the Sites.

Use of Data

www.nipd.com uses the collected data for various purposes:

Transfer of Data

Your information, including personal data, may be transferred to — and maintained on — computers located outside of your province, country or other governmental jurisdiction where the data protection laws may differ than those from your jurisdiction.

If you are located outside Cyprus and choose to provide information to us, please note that we transfer the data, including personal data, to Cyprus and process it there.

Your consent to this Privacy Policy followed by your submission of such information represents your agreement to that transfer.

www.nipd.com will take all reasonable steps necessary to ensure that your data is treated securely and in accordance with this Privacy Policy and no transfer of your personal data will take place to an organization or a country unless there are adequate controls in place including the security of your data and other personal information.

Disclosure of Data

NIPD Genetics complies with the protection of personal data regulation and will not sale or trade your personal data.

NIPD Genetics may disclose your personal data in the good faith belief that such action is necessary to:

Security of Data

The security of your data is important to us, but remember that no method of transmission over the Internet, or method of electronic storage is 100% secure. While we strive to use commercially acceptable means to protect your Personal Data, we cannot guarantee its absolute security.

Service Providers

We may employ third party companies and individuals to facilitate, maintain or operate our Sites ("Service Providers"), to provide the SItes on our behalf, to perform service-related services or to assist us in analyzing how our Sites is used.

These third parties have access to your Personal Data only to perform these tasks on our behalf and are obligated not to disclose or use it for any other purpose.

Analytics

We may use third-party Service Providers to monitor and analyze the use of our Sites.

Google Analytics

Google Analytics is a web analytics service offered by Google that tracks and reports website traffic. Google uses the data collected to track and monitor the use of our Service. This data is shared with other Google services. Google may use the collected data to contextualize and personalize the ads of its own advertising network.

You can opt-out of having made your activity on the Service available to Google Analytics by installing the Google Analytics opt-out browser add-on. The add-on prevents the Google Analytics JavaScript (ga.js, analytics.js, and dc.js) from sharing information with Google Analytics about visits activity.

For more information on the privacy practices of Google, please visit the Google Privacy & Terms web page

Access to your personal data, correction, deletion, and Opting Out

You have the right to review, update or delete any of your personal data by sending a request at NIPD Genetics Personal Data Officer pdo@nipd.com

Links to Other Sites

Our Sites may contain links to other sites that are not operated by us. If you click on a third-party link, you will be directed to that third party's site. We strongly advise you to review the Privacy Policy of every site you visit.

We have no control over and assume no responsibility for the content, privacy policies or practices of any third-party sites or services.

Children's Privacy

Our Service does not address anyone under the age of 18 ("Children").

We do not knowingly collect personally identifiable information from anyone under the age of 18. If you are a parent or guardian and you are aware that your Children has provided us with Personal Data, please contact us. If we become aware that we have collected Personal Data from children without verification of parental consent, we take steps to remove that information from our servers.

Changes to This Privacy Policy

We may update our Privacy Policy from time to time. We will notify you of any changes by posting the new Privacy Policy on this page.

We will let you know via email and/or a prominent notice on our Service, prior to the change becoming effective and update the "effective date" at the top of this Privacy Policy.

You are advised to review this Privacy Policy periodically for any changes. Changes to this Privacy Policy are effective when they are posted on this page.

Contact Us

If you have any questions about this Privacy Policy, please contact pdo@nipd.com

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