What does the Sanford Chip test for?

This simple blood test provides insights to inherited conditions and how you process medications.

By: Sanford Health News .

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The Sanford Chip is a genetic blood test that provides insight into your pharmacogenetics — or how your body responds to certain drugs — and your predisposition to certain inherited conditions.

The medications and conditions that the Sanford Chip tests specific genes for are ones that have actionable steps.

The pharmacogenetic results can help your doctor prescribe the right medication and dosage sooner, and reduce the side effects you may experience from those drugs.

If the test reveals you carry a genetic mutation for a hereditary condition, there are screenings, protocols, treatments and other management steps that can be done to minimize your risk.

Here are the medications and conditions the Sanford Chip currently tests for.

 

Classes of drugs tested by the Sanford Chip:

Your specific genetics can influence how effective these medications are for you. Knowing this information can help your doctor prescribe the best medication at the right dose for you now and in the future.

Anticoagulants

  • These medications, also called blood thinners, slow or prevent blood from clotting
  • Genes tested: CYP2C9, VKORC1CYP2C19
  • Example drugs affected by these genes: Clopidogrel, Warfarin

Antidepressants, SSRIs and TCAs (tricyclic antidepressants)

  • These medications are used to treat depression, anxiety and neuropathic pain
  • Genes tested: CYP2C19, CYP2D6
  • Example drugs affected by these genes: Amitriptyline, Citalopram, Clomipramine, Desipramine, Doxepin, Escitalopram, Fluoxetine, Fluvoxamine, Imipramine, Nortriptyline, Paroxetine, Sertraline, Trimipramine

Antiemetics (5-HT3 receptor antagonists)

  • These medications are used to treat vomiting and nausea
  • Gene tested: CYP2D6
  • Example drug affected by this gene: Ondansetron

Antifungals

  • These medications are used to treat fungal infections
  • Gene tested: CYP2C19
  • Example drug affected by this gene: Voriconazole

Antimetabolites and fluoropyrimidines

  • These medications are used to treat cancerous tumors, including colorectal cancer
  • Gene tested: DPYD
  • Example drugs affected by this gene: Capecitabine, Fluorouracil

Immunosuppressants

  • These medications are used to modify the immune system, commonly with organ transplants
  • Gene tested: CYP3A5
  • Example drugs affected by this gene: Tacrolimus

Opioids

  • These medications are strong pain relievers
  • Gene tested: CYP2D6
  • Example drugs affected by this gene: Codeine, Tramadol

Statins (HMG CoA reductase inhibitors)

  • These medications are used to treat high cholesterol
  • Gene tested: SLCO1B1
  • Example drug affected by this gene: Simvastatin

Thiopurines, purine analogs and purine antagonists

  • These medications are used to modify the immune system or specific enzymes, commonly used with treatments for leukemia, lupus or Crohn’s disease
  • Gene tested: TPMT
  • Example drugs affected by this gene: Azathioprine, Mercaptopurine, Thioguanine

 

Heart-related conditions tested for in the Sanford Chip:

These heart conditions are rare, but very serious. If you are at risk of developing one of these conditions, your provider may recommend additional screening protocols or other management steps to monitor your heart health.

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • Arrhythmogenic right ventricular cardiomyopathy is a genetic disorder where normal heart muscle is replaced with fatty tissue, mainly in the right ventricle of the heart
  • ARVC may also be known as arrhythmogenic right ventricular dysplasia, or ARVD
  • ARVC can cause irregular heart rhythms and weaken the heart over time, leading to heart failure
  • Genes tested: PKP2, DSP, DSC2, TMEM43, DSG2

Catecholaminergic polymorphic ventricular tachycardia (CPVT)

  • Catecholaminergic polymorphic ventricular tachycardia is a genetic condition where your heart beats abnormally fast
  • Strenuous exercise or high emotional stress can bring on symptoms and increase the risk of sudden death from heart issues
  • Gene tested: RYR2

Dilated cardiomyopathy (DCM)

  • Dilated cardiomyopathy is a genetic condition that decreases the heart’s ability to pump blood due to dilated (stretched and enlarged) heart muscles, especially the left ventricle
  • DCM weakens the heart muscles as they dilate, which can lead to heart failure, blood clots and arrhythmia (irregular heart beat)
  • Genes tested: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA

Familial hypercholesterolemia (FH)

  • Familial hypercholesterolemia is a genetic disorder that causes high levels of LDL (bad) cholesterol to build up in the blood
  • People with FH have a high risk of developing heart disease
  • Genes tested: LDLR, APOB, PCSK9

Familial thoracic aortic aneurysm and dissection (familial TAAD)

  • Familial thoracic aortic aneurysm and dissection is a genetic condition characterized by aneurysms (bulges) or dissections (tears) in the heart, which causes blood to flow abnormally to the body
  • Familial TAAD can lead to heart failure, a ruptured aorta or life-threateningly low levels of blood to the brain or other vital organs
  • Genes tested: ACTA2, MYH11, TGFBR2

Hypertrophic cardiomyopathy (HCM)

  • Hypertrophic cardiomyopathy is a hereditary disease that causes the heart muscle to thicken, most often in the left ventricle
  • HCM makes the heart work harder to pump blood to other parts of the body
  • HCM is the most inherited heart disease in the United States
  • Genes tested: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA

Long QT syndrome (LQTS)

  • Long QT syndrome is a genetic heart condition that increases your risk of developing arrhythmia (irregular heart beat)
  • Genes tested: KCNH2, KCNQ1, SCN5A

 

Cancer-related conditions tested for in the Sanford Chip:

These conditions are generally very rare. If you carry mutations in the genes listed below, your provider may recommend more frequent and targeted screenings to focus on the areas likely to be affected.

Familial adenomatous polyposis (FAP)

  • Familial adenomatous polyposis is a genetic condition that causes many polyps (small bumps) to form in the colon and along the gastrointestinal tract
  • If untreated, these polyps will likely lead to cancerous tumors
  • Gene tested: APC

Hereditary breast and ovarian cancer (HBOC) syndrome

  • Hereditary breast and ovarian cancer syndrome is a genetic disorder that increases your risk of developing cancer
  • Females and males with HBOC have a high risk of developing breast, ovarian, prostate, pancreatic and other cancers, usually occurring at a younger age than normal
  • Genes tested: BRCA1 , BRCA2

Hereditary paraganglioma-pheochromocytoma syndrome

  • Hereditary paraganglioma-pheochromocytoma syndrome is an inherited condition that causes tumors on the adrenal glands, blood vessels or nerves, especially in the head and neck region
  • People with hereditary paraganglioma-pheochromocytoma syndrome are at a higher risk of developing kidney cancer
  • Genes tested: SDHD, SDHAF2, SDHC, SDHB

Juvenile polyposis syndrome (JPS)

  • Juvenile polyposis syndrome is a genetic disorder that causes many polyps (small bumps) to develop in the colon, intestines or other parts of the gastrointestinal tract
  • People with JPS have an increased risk of developing cancer because of the polyp growths
  • “Juvenile” describes the polyp type, not the patient’s age
  • Genes tested: BMPR1A, SMAD4

Li-Fraumeni syndrome (LFS)

  • Li-Fraumeni syndrome is a hereditary genetic disorder that predisposes you to a range of specific and rare cancers
  • People with LFS have a higher risk of being diagnosed with childhood cancers, breast cancer, brain tumors, sarcomas, leukemia and many other types of cancer
  • Gene tested: TP53

Lynch syndrome (LS)

  • Lynch syndrome, also known as hereditary nonpolyposis colorectal cancer, is a genetic disorder that greatly increases your risk of developing cancer
  • People with LS are at an increased risk of being diagnosed with colon, uterine, ovarian and other cancers
  • Genes tested: MLH1, MSH2, MSH6, PMS2

Multiple endocrine neoplasia type 1 (MEN1)

  • Multiple endocrine neoplasia type 1 is a hereditary condition that increases the risk to develop growths and cancer
  • People with MEN1 are at an increased risk to develop parathyroid, pituitary and pancreatic growths, with an increased risk for cancer
  • Gene tested: MEN1

Multiple endocrine neoplasia type 2 (MEN2)

  • Multiple endocrine neoplasia type 2 is a genetic condition that increases your risk of developing tumors on your thyroid gland and adrenal glands
  • MEN2 puts you at a higher risk of developing a rare thyroid cancer called medullary thyroid carcinoma
  • Gene tested: RET

MYH-associated polyposis (MAP)

  • MYH-associated polyposis is a genetic disorder that causes you to develop many polyps (small bumps) along the colon, which can become cancerous
  • People with two abnormal copies of the MUTYH gene are at an increased risk for colon and other cancers; people with one abnormal copy of the gene may be at a slightly increased risk for colon cancer
  • Gene tested: MUTYH

Peutz-Jeghers syndrome (PJS)

  • Peutz-Jeghers syndrome is a genetic disorder that increases your risk of developing small intestine and other digestive system polyps (growths), with an increased risk of cancer in the digestive system, breast, pancreas, testicle and other areas
  • People with PJS often have dark spots on their lips, palms of the hand and soles of the feet
  • Gene tested: STK11

PTEN hamartoma tumor syndrome (PHTS)

  • PTEN hamartoma tumor syndrome is a group of genetic conditions that cause benign (non-cancerous) growths to form in many parts of the body, including inside the mouth, and can also be associated with other findings, such as learning disabilities or a large head
  • PHTS is linked with an increased risk for breast cancer, thyroid cancer, uterine cancer, kidney cancer, melanoma and other cancers
  • Gene tested: PTEN

Retinoblastoma (Rb)

  • Retinoblastoma is a rare genetic disorder that causes eye cancer starting in the retina
  • People usually develop the tumors as infants
  • Gene tested: RB1

Von Hippel-Lindau (VHL) syndrome

  • Von Hippel-Lindau syndrome is a genetic condition that causes tumors or cysts to form in the brain, spine, eyes, ears, pancreas and other organs
  • VHL syndrome is associated with blood vessel overgrowth
  • People with VHL syndrome have an increased risk of developing kidney cancer
  • Gene tested: VHL

 

Other disorder predispositions tested for in the Sanford Chip:

If you’re at risk for developing one of these disorders, your provider may recommend management steps to help treat the disorder, or begin a screening protocol to closely monitor your condition.

Ehlers-Danlos syndrome (EDS), vascular type

  • The vascular type of Ehlers-Danlos syndrome (EDS) is a genetic disorder that affects connective tissue, which provides strength and flexibility to the body and structure to organs
  • EDS, vascular type, weakens the heart muscles, large intestine and uterus, which can lead to a rupture
  • Gene tested: COL3A1

Loeys-Dietz syndrome

  • Loeys-Dietz syndrome is a genetic condition that affects connective tissue, which provides strength and flexibility to the body and structure to organs
  • Loeys-Dietz syndrome affects connective tissue throughout the body, but one distinction is an enlarged aorta (a large blood vessel in the heart), which can lead to life-threatening aneurysms (bulges) or dissections (tears)
  • Genes tested: SMAD3, TGFBR1, TGFBR2

Malignant hyperthermia susceptibility (MHS)

  • Malignant hyperthermia susceptibility is a genetic disorder that increases your risk of developing a significant increase in your body temperature, which can result in death
  • Malignant hypothermia, the significant increase in body temperature, can happen after exposure to high temperatures or anesthetics, which are medications used to block pain or prevent body movement during surgery
  • Genes tested: RYR1, CACNA1S

Marfan syndrome

  • Marfan syndrome is a genetic condition that affects the connective tissue, which provides strength and flexibility to the body and structure to organs
  • People with Marfan syndrome are at risk to develop changes in their connective tissue, eyes, joints, heart and blood vessels
  • Genes tested: FBN1

Ornithine transcarbamylase deficiency (OTD)

  • Ornithine transcarbamylase deficiency is a genetic condition that causes too much ammonia to be stored in the blood, which especially affects the nervous system
  • Too much ammonia in the body can be toxic, or cause seizures, comas, brain damage and liver damage
  • Gene tested: OTC

Tuberous sclerosis complex (TSC)

  • Tuberous sclerosis complex is a genetic condition that cause unusual skin features, seizures, kidney dysfunction and tumors
  • TSC can affect almost any organ, including the brain, heart and lungs
  • Genes tested: TSC1, TSC2

Wilson disease

  • Wilson disease is a genetic condition in individuals with two abnormal copies of the ATP7B gene, resulting in too much copper being stored in the body
  • The resulting collection of copper over time may cause liver, neurologic (related to the brain and nerves) or psychiatric (mental) disease
  • Individuals with one abnormal copy of the ATP7B gene do not develop symptoms of Wilson disease, but are considered carriers of the disease
  • Gene tested: ATP7B

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