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Leah Williams GMI

"There was still that one missing piece to the puzzle"

Leah participated in the Whole Genome Sequencing Project to find out what that was.
Read Leah's story

MyCode conditions

Geisinger's MyCode team currently provides genetic analysis reports to patients when they have a gene change that can cause an increased risk to develop one or more of twenty-five conditions. With the care of your medical team, many of these conditions can be prevented or detected at an early, treatable, stage.

hereditary breast and ovarian cancer
May cause early breast, ovarian, prostate and other cancers. (CDC tier 1 condition)
familial hypercholesterolemia
May cause early heart attacks and strokes. (CDC tier 1 condition)
lynch syndrome
May cause early colon, uterine and other cancers. (CDC tier 1 condition)

All conditions:

Cardiovascular risk

Arrhythmogenic right ventricular cardiomyopathy
disease of the heart muscle with risk for cardiac arrest
Learn about ARVC

diseases of the heart muscle with dangerous complications

Catecholaminergic polymorphic ventricular tachycardia
abnormal heart rhythm (arrhythmia)

Familial hypercholesterolemia
early heart attacks and strokes 

Familial thoracic aortic aneurysms and dissections
aorta can become weakened and stretched, sudden tearing of the layers in the aorta wall

Inherited arrhythmias
irregular heartbeat with risk for cardiac arrest

Loeys-Dietz syndrome
aortic aneurysms

Marfan syndrome
connective tissue disease that can cause heart, eye, and skeletal problems

Vascular Ehlers-Danlos syndrome
a disease of the connective tissues, including arteries and muscles, that can increase the risk for health complications such as rupture of arteries

Cancer risk

Familial adenomatous polyposis
early colon cancer

Hereditary breast and ovarian cancer
early breast, ovarian, prostate and other cancers

Hereditary pheochromocytomas and paragangliomas
tumors that can release extra hormones and, rarely, become cancer

Juvenile Polyposis
intestinal polyps, cancer of the intestine including colon

Li-Fraumeni syndrome
early breast, soft tissue, brain, adrenal and other cancers

Lynch syndrome
early colon, uterine and other cancers

Multiple endocrine neoplasia type 1
tumors that can release extra hormones and, rarely, become cancer

Multiple endocrine neoplasia type 2
early thyroid cancer

MUTYH-associated polyposis
colon cancer

Neurofibromatosis, type 2
noncancerous tumors in nervous system

Peutz-Jeghers syndrome
early breast, colon, pancreatic and other cancers

PTEN hamartoma tumor syndrome
early breast, thyroid, uterine and other cancers, with intellectual disability in some cases

early eye cancer

Tuberous sclerosis
multiple types of benign (non-cancer) tumors

Von Hippel-Lindau
early kidney cancer and benign tumors of brain, eye, pancreas and adrenal gland

WT1-related Wilms tumor
malignant kidney tumor


Fabry disease 
enzyme defect leading to damage of blood vessels in the skin and cells in the kidneys, heart, and nervous system 

Hereditary hemochromatosis
too much iron in the body, liver problems including: cirrhosis, liver failure and liver cancer, diabetes, heart disease, changes in skin color
Hereditary hemorrhagic telangiectasia (HHT)
abnormal blood vessel formation in skin, mucous membranes, lungs, liver, brain
Malignant hyperthermia
life-threatening condition usually triggered by exposure to certain drugs used for general anesthesia

Ornithine transcarbamylase deficiency
ammonia in blood, vomiting, lethargy, coma

Wilson Disease
too much copper in the body, liver problems, changes to nervous system including: clumsiness, problems walking, slurred speech, and impaired thinking, mental health issues including: depression, anxiety, and mood swings