Familial hypercholesterolemia
LDLR · APOB · PCSK9
Lifelong severe LDL and premature coronary artery disease risk.
$20K+potential heart attack care cost
Earlier conversation LDL measurement, lipid-lowering care, and family testing.
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Order my sequencingLynch syndrome
MLH1 · MSH2 · MSH6 · PMS2 · EPCAM
Higher inherited risk of colorectal, endometrial, and other cancers.
$30K–$150K+potential cancer treatment cost
Earlier conversation Frequent colonoscopy, surveillance, and family testing.
Hereditary cancer risk
BRCA1 · BRCA2 · PALB2
Elevated breast, ovarian, pancreatic, or prostate cancer risk.
$100K+potential first-year cancer care
Earlier conversation Enhanced imaging, organ-specific surveillance, and risk review.
Hereditary polyposis
APC · MUTYH · STK11 · SMAD4 · PTEN
Elevated colorectal, gastric, pancreatic, and related cancer risk.
$100K+potential advanced GI cancer care
Earlier conversation Earlier endoscopy, polyp management, and targeted surveillance.
Thoracic aortic disease
FBN1 · TGFBR1 · TGFBR2 · SMAD3 · ACTA2
Predisposition to aortic aneurysm, dissection, or arterial rupture.
$45K+potential repair hospitalization
Earlier conversation Baseline imaging, monitoring, and blood-pressure care.
Cardiomyopathy
MYH7 · MYBPC3 · TTN · LMNA · FLNC
Risk of heart-muscle disease, heart failure, or arrhythmia.
$30K+potential annual severe care cost
Earlier conversation ECG, echocardiography, cardiac MRI, and family screening.
Inherited arrhythmias
KCNQ1 · KCNH2 · SCN5A · CALM1-3 · RYR2
Long-QT, Brugada, or inherited ventricular tachycardia risk.
$35K–$100K+potential cardiac arrest care
Earlier conversation ECG monitoring, trigger avoidance, and treatment review.
Medication safety
CYP2D6 · CYP2C19 · DPYD · TPMT · SLCO1B1
Altered drug response or risk of severe adverse reactions.
30%fewer relevant drug reactions observed
Earlier conversation Confirmatory pharmacogenomic review before selected medications.
High-penetrance tumor syndromes
RET · TP53 · VHL · MEN1 · TSC1/2 · SDHx
High risk of syndrome-specific thyroid, renal, adrenal, or neural tumors.
$100K+potential advanced cancer care
Earlier conversation Age-appropriate imaging, biochemical testing, and family review.
Treatable metabolic disorders
ATP7B · ABCD1 · HFE · GLA · GAA · TTR
Inherited disorders affecting metabolism, nerves, muscles, or organs.
$100K+potential transplant episode
Earlier conversation Disorder-specific lab testing, imaging, and specialist review.
Malignant hyperthermia
RYR1 · CACNA1S
A potentially fatal reaction to certain anesthetics.
Lifesavingpotential anesthesia risk avoided
Earlier conversation Confirmatory review, an anesthesia alert, and trigger avoidance.
Reproductive carrier screening
CFTR · SMN1 · HBB · HBA1/2 · FMR1 · DMD
Risk of passing on a recessive or X-linked condition.
For familymore informed planning
Earlier conversation Partner testing, genetic counseling, and planning options.