RNA Sequencing Test: Gene Expression, Fusions, and Results
RNA sequencing, often called RNA-seq, examines the RNA molecules that cells produce when genes are active. Unlike DNA testing, which mainly identifies inherited or...
Sanger Sequencing Test: Single-Gene Variants and Results
Sanger sequencing is a focused DNA test that reads the order of bases in a selected gene region. It is often used when a...
Single-Gene Sequencing Test: DNA Variants, Diagnosis, and Results
A single-gene sequencing test looks for disease-related DNA variants in one selected gene. It is most useful when a person’s symptoms, biochemical findings, imaging,...
SNP Genotyping Test: DNA Variants, Risk Markers, and Results
SNP genotyping tests identify selected single-nucleotide polymorphisms—positions in DNA where people commonly differ by one base. A test may examine one medically important variant,...
Structural Variant Genetic Test: Inversions, Translocations, and Results
Structural variant genetic testing looks for large rearrangements in DNA, including inversions, translocations, insertions, deletions, duplications, and complex combinations of these events. Unlike a...
Targeted Variant Test: Known Mutation, Family Testing, and Results
A targeted variant test answers a narrow genetic question: is a specific, already identified DNA change present in this person? It is commonly used...
Variant Classification in Genetic Testing: Pathogenic, Benign, VUS, and Results
Variant classification is the process laboratories use to decide whether a DNA change is likely to cause disease. Most clinical germline reports use five...
Whole-Exome Sequencing (WES) Method: Coding DNA, Variants, and Results
Whole-exome sequencing, or WES, examines most of the protein-coding regions of thousands of genes at once. These regions, called exons, make up only a...
Whole-Genome Sequencing (WGS) Method: DNA Variants, Structural Changes, and Results
Whole-genome sequencing, or WGS, reads DNA across coding and noncoding regions instead of capturing mainly exons. A clinical genome can be analyzed for single-base...
Achondroplasia Genetic Test: FGFR3 Gene Mutation and Results
An achondroplasia genetic test looks for a disease-causing change in the FGFR3 gene, usually the specific variant that replaces glycine with arginine at position...
Alpha-1 Antitrypsin Deficiency Genetic Test: SERPINA1 Gene, Liver, Lung, and Results
An alpha-1 antitrypsin deficiency genetic test identifies inherited variants in the SERPINA1 gene that can lower the amount or function of alpha-1 antitrypsin, often...
Alpha-Thalassemia Genetic Test: HBA1, HBA2 Deletions, Carrier Risk, and Results
An alpha-thalassemia genetic test looks for deletions and other disease-causing changes involving the HBA1 and HBA2 genes, which make alpha-globin chains used in hemoglobin....
Alport Syndrome Genetic Test: COL4A3, COL4A4, COL4A5, and Results
An Alport syndrome genetic test examines COL4A3, COL4A4, and COL4A5, the genes that encode part of the type IV collagen network in the kidney’s...
Ashkenazi Jewish Genetic Carrier Screening Panel: Common Conditions and Results
An Ashkenazi Jewish genetic carrier screening panel checks for inherited variants that are more common among people with Ashkenazi Jewish ancestry and can cause...
Autosomal Recessive Carrier Screening Test: Partner Risk and Results
Autosomal recessive carrier screening looks for disease-causing gene variants that usually do not make a carrier ill but can create a reproductive risk when...
Becker Muscular Dystrophy Genetic Test: DMD Gene Mutations and Results
A Becker muscular dystrophy genetic test examines the DMD gene for variants that reduce the amount or function of dystrophin, a protein that protects...
Beta-Thalassemia Genetic Test: HBB Gene Mutations, Carrier Risk, and Results
A beta-thalassemia genetic test examines the HBB gene for variants that reduce or stop production of beta-globin, one of the protein chains in adult...
Biotinidase Deficiency Genetic Test: BTD Gene Mutations and Results
A biotinidase deficiency genetic test analyzes the BTD gene for variants that impair recycling of biotin, a vitamin needed by several metabolic enzymes. Testing...
Canavan Disease Carrier Test: ASPA Gene, Carrier Risk, and Results
A Canavan disease carrier test looks for pathogenic variants in ASPA, the gene that makes the enzyme aspartoacylase. A person with one disease-causing ASPA...
Congenital Adrenal Hyperplasia Genetic Test: CYP21A2 Gene and Results
A congenital adrenal hyperplasia genetic test commonly analyzes CYP21A2, the gene responsible for 21-hydroxylase deficiency, which causes the great majority of CAH. Testing can...