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...
ALK Mutation Test: Lung Cancer, Targeted Therapy, and Results
An ALK mutation test looks for an abnormal change involving the ALK gene in cancer cells. In lung cancer, the important finding is usually...
APC Genetic Test: Familial Adenomatous Polyposis, Colon Cancer Risk, and Results
An APC genetic test looks for inherited harmful variants in the APC gene, the main cause of familial adenomatous polyposis. Familial adenomatous polyposis, or...
ASXL1 Mutation Test: Blood Cancer, Myeloid Neoplasm, and Results
An ASXL1 mutation test looks for acquired changes in the ASXL1 gene in blood or bone marrow cells. ASXL1 variants are found in several...
ATM Genetic Test: Breast Cancer Risk, DNA Repair, and Results
An ATM genetic test looks for an inherited harmful variant in the ATM gene, which helps cells recognize and repair damaged DNA. People with...
BAP1 Genetic Test: Melanoma, Mesothelioma, Kidney Cancer Risk, and Results
A BAP1 genetic test looks for an inherited harmful variant in the BAP1 gene, which can cause BAP1 tumor predisposition syndrome. This rare syndrome...
BCL2 Rearrangement Test: Follicular Lymphoma, Double-Hit Lymphoma, and Results
A BCL2 rearrangement test looks for a chromosome change that places the BCL2 gene under the control of a highly active partner, most often...
BCL6 Rearrangement Test: Lymphoma, Prognosis, and Results
A BCL6 rearrangement test looks for a structural change involving the BCL6 gene on chromosome 3. BCL6 normally helps germinal-center B cells grow, change...
BCR-ABL1 Test: CML, Leukemia, Philadelphia Chromosome, and Results
A BCR-ABL1 test detects or measures the fusion gene that drives chronic myeloid leukemia and a major subtype of acute lymphoblastic leukemia. The fusion...
BRAF Mutation Test: Melanoma, Colon, Thyroid, Lung Cancer, and Results
A BRAF mutation test looks for changes in the BRAF gene, which controls part of the MAPK signaling pathway that tells cells when to...
BRCA1 and BRCA2 Genetic Test: Cancer Risk, Mutations, and Results
A BRCA1 and BRCA2 genetic test looks for inherited or tumor-acquired changes in two genes that repair damaged DNA. A germline pathogenic variant can...
CALR Mutation Test: Myeloproliferative Neoplasm, Platelets, and Results
A CALR mutation test looks for acquired changes in the calreticulin gene, usually small insertions or deletions in exon 9. These mutations are major...
CCND1/IGH Fusion Test: Mantle Cell Lymphoma and Results
A CCND1/IGH fusion test looks for the chromosome translocation t(11;14)(q13;q32), which places CCND1 next to the immunoglobulin heavy-chain gene IGH. The change causes excess...
CDH1 Genetic Test: Hereditary Diffuse Gastric Cancer Risk and Results
A CDH1 genetic test looks for inherited changes in the gene that makes E-cadherin, a protein that helps epithelial cells attach to one another....
CEBPA Mutation Test: AML Prognosis, Leukemia Genetics, and Results
A CEBPA mutation test looks for changes in a gene that controls the maturation of myeloid blood cells. CEBPA mutations occur in a subset...
CHEK2 Genetic Test: Breast, Colon, Prostate Cancer Risk, and Results
A CHEK2 genetic test looks for inherited changes in a DNA-damage response gene associated most consistently with a moderate increase in female breast cancer...