Loeys-Dietz Syndrome Genetic Test: TGFBR1, TGFBR2, SMAD3, and Results
A Loeys-Dietz syndrome genetic test looks for disease-causing variants in genes that regulate transforming growth factor beta signaling, most often TGFBR1, TGFBR2, SMAD3, TGFB2,...
Long QT Syndrome Genetic Test: KCNQ1, KCNH2, SCN5A, and Results
A long QT syndrome genetic test looks for inherited variants that delay the heart’s electrical recovery after each beat. The three most important genes...
LPA Genetic Test: Lipoprotein(a) [Lp(a)], Heart Risk, and Results
An LPA genetic test examines inherited variation in the LPA gene, which strongly influences blood levels of lipoprotein(a), usually written as Lp(a). High Lp(a)...
Maturity-Onset Diabetes of the Young (MODY) Genetic Test: Monogenic Diabetes Genes, Diagnosis, and Results
A MODY genetic test looks for a disease-causing variant in one gene that disrupts insulin production or glucose sensing. The most common clinically important...
Mitochondrial Diabetes Genetic Test: mtDNA Variants and Results
A mitochondrial diabetes genetic test looks for disease-causing variants in mitochondrial DNA, most often the m.3243A>G variant in the MT-TL1 gene. This form of...
Mitochondrial Disease Genetic Test: mtDNA, Nuclear Genes, and Results
A mitochondrial disease genetic test looks for pathogenic variants in two separate genetic systems: the small mitochondrial genome and the much larger nuclear genome....
Monogenic Obesity Genetic Test: MC4R, LEP, LEPR, POMC, and Results
Severe obesity that begins in infancy or early childhood can occasionally result from a pathogenic change in a single gene controlling hunger, satiety, energy...
MTHFR Genetic Test: C677T, A1298C, Homocysteine, and Clinical Meaning
MTHFR testing commonly reports two widespread gene variants, C677T and A1298C. These variants can modestly change activity of the methylenetetrahydrofolate reductase enzyme, which participates...
Neonatal Diabetes Genetic Test: KCNJ11, ABCC8, INS, and Results
Diabetes diagnosed during the first six months of life is rarely autoimmune type 1 diabetes. It is usually monogenic, meaning a change in one...
PCSK9 Genetic Test: Cholesterol, Heart Disease Risk, and Results
PCSK9 genetic testing can help explain unusually high or unusually low low-density lipoprotein cholesterol, but the direction of effect matters. Rare gain-of-function variants increase...
Polygenic Risk Score (PRS) for Coronary Artery Disease: Heart Attack Risk and Results
A coronary artery disease polygenic risk score estimates inherited susceptibility by combining effects from hundreds, thousands, or millions of common DNA variants. Unlike a...
Polygenic Risk Score (PRS) for Obesity: Genetic Risk, BMI, and Results
An obesity polygenic risk score combines many common DNA variants to estimate inherited tendency toward higher body mass index or obesity. It can reveal...
Polygenic Risk Score (PRS) for Type 2 Diabetes: Genetic Risk and Results
A type 2 diabetes polygenic risk score summarizes the small effects of many common genetic variants into an estimate of inherited susceptibility. It can...
Prothrombin G20210A Genetic Test: Blood Clot Risk and Results
The prothrombin G20210A genetic test detects a specific variant in F2, the gene encoding coagulation factor II. The variant can increase prothrombin production and...
Restrictive Cardiomyopathy Genetic Test: Heart Muscle Genes and Results
Restrictive cardiomyopathy is an uncommon heart-muscle disorder in which one or both ventricles become unusually stiff and cannot fill normally, even when pumping strength...
Short QT Syndrome Genetic Test: Heart Rhythm Genes and Results
Short QT syndrome is a very rare inherited electrical disorder in which the heart’s recovery time between beats is abnormally brief, creating vulnerability to...
Thoracic Aortic Aneurysm Genetic Test: FBN1, TGFBR1, TGFBR2, and Results
A thoracic aortic aneurysm develops when part of the aorta within the chest enlarges and its wall becomes vulnerable to tearing or rupture. Genetic...
Thrombophilia Genetic Test: Factor V Leiden, Prothrombin G20210A, and Results
A thrombophilia genetic test looks for inherited changes that increase susceptibility to venous blood clots, most commonly factor V Leiden in F5 and prothrombin...
Vascular Ehlers-Danlos Syndrome Genetic Test: COL3A1 Gene and Results
Vascular Ehlers-Danlos syndrome, or vEDS, is a rare inherited connective-tissue disorder marked by fragility of arteries, bowel, uterus, skin, and other tissues. A clinical-grade...
Wilson Disease Genetic Test: ATP7B, Copper Metabolism, and Results
Wilson disease is a treatable inherited disorder in which impaired ATP7B function prevents normal handling and biliary excretion of copper. Copper first accumulates in...