What does the Sanford Chip test for?

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

Sanford Chip tray

The Sanford Chip is a genetic blood test that may provide 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 for are ones that have actionable steps.

The pharmacogenetic results may 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 that puts you at risk for a hereditary condition, there are screenings, protocols, treatments or other management steps that can be done to minimize the impact the condition could have on your health.

Here are the conditions the Sanford Chip currently tests for.

Heart-related conditions the Sanford Chip tests for

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

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

  • Arrhythmogenic right ventricular cardiomyopathy is a genetic condition where normal heart muscle is replaced with fatty tissue or scar tissue
  • 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 and hypertrophic cardiomyopathy (DCM and HCM)

  • Both dilated and hypertrophic cardiomyopathy are genetic conditions that decrease the heart’s ability to pump blood
  • DCM weakens the heart muscles as they dilate (stretch and enlarge), which can lead to heart failure, blood clots and irregular heartbeat
  • HCM causes the heart muscle to thicken, which makes the heart work harder to pump blood
  • Genes tested: MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA

Ehlers-Danlos syndrome (EDS), vascular type

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

Familial hypercholesterolemia (FH)

  • Familial hypercholesterolemia is a genetic condition 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

Thoracic aortic aneurysm and dissection (TAAD)

  • Thoracic aortic aneurysm and dissection is a genetic condition characterized by aneurysms (bulges) or dissections (tears) in the aorta
  • 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, TGFBR1, TGFBR2, FBN1, SMAD3

Long QT syndrome (LQTS)

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

Cancer-related conditions the Sanford Chip tests for

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 condition that increases your risk of developing certain types of cancer
  • Females and males with HBOC have a high risk of developing breast and pancreatic cancer
  • Females also have a high risk of developing ovarian cancer
  • Males are at high risk of prostate cancer
  • These cancers usually occur at a younger age than normal
  • Genes tested: BRCA1 , BRCA2

Hereditary paraganglioma-pheochromocytoma syndrome

  • Hereditary paraganglioma-pheochromocytoma syndrome is a genetic condition that can cause 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

Hereditary retinoblastoma (Rb)

  • Retinoblastoma is a rare genetic condition that can lead to cancer of the eye
  • People usually develop the tumors as infants or young children
  • Gene tested: RB1

Juvenile polyposis syndrome (JPS)

  • Juvenile polyposis syndrome is a genetic condition that causes many polyps 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 genetic condition 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, adrenal gland and other types of cancer
  • Gene tested: TP53

Lynch syndrome (LS)

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

Multiple endocrine neoplasia type 1 (MEN1)

  • Multiple endocrine neoplasia type 1 is a genetic 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 condition that causes you to develop many polyps 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 these cancers
  • Gene tested: MUTYH

Peutz-Jeghers syndrome (PJS)

  • Peutz-Jeghers syndrome is a genetic condition that increases your risk of developing small intestine and other digestive system polyps, 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 size
  • PHTS is linked with an increased risk for breast cancer, thyroid cancer, uterine cancer and other cancers
  • Gene tested: PTEN

Tuberous sclerosis complex (TSC)

  • Tuberous sclerosis complex is a genetic condition that can 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

Von Hippel-Lindau (VHL) syndrome

  • Von Hippel-Lindau syndrome is a genetic condition that causes tumors or cysts to form in the kidney, eyes, ears, nervous system (brain and spine), adrenal glands and other organs
  • VHL syndrome is associated with blood vessel overgrowth
  • Gene tested: VHL

Other disorder predispositions the Sanford Chip tests for

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.

Malignant hyperthermia susceptibility (MHS)

  • Malignant hyperthermia susceptibility is a genetic condition that increases your risk of developing a severe reaction to some anesthetics, which are medications used to block pain or prevent body movement during surgery
  • Genes tested: RYR1, CACNA1S

Ornithine transcarbamylase deficiency (OTC deficiency)

  • 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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