Pan-Ethnic Carrier Screening Test: Common Genetic Disorders and Results
Pan-ethnic carrier screening tests people for inherited conditions without limiting the panel to disorders historically associated with one ancestry group. It is usually offered...
Phenylketonuria (PKU) Genetic Test: PAH Gene Mutations and Results
A phenylketonuria genetic test looks for pathogenic variants in the PAH gene, which provides instructions for phenylalanine hydroxylase. This enzyme converts the amino acid...
Polycystic Kidney Disease Genetic Test: PKD1, PKD2 Genes, and Results
A polycystic kidney disease genetic test looks for inherited changes that explain cyst formation, most often in PKD1 or PKD2. It can confirm autosomal...
Pompe Disease Genetic Test: GAA Gene Mutations, Carrier Risk, and Results
A Pompe disease genetic test analyzes the GAA gene for inherited variants that reduce acid alpha-glucosidase activity. Pompe disease is an autosomal recessive lysosomal...
Primary Ciliary Dyskinesia Genetic Test: Ciliary Gene Mutations and Results
A primary ciliary dyskinesia genetic test looks for inherited variants that disrupt the structure or movement of motile cilia. These microscopic structures clear mucus...
Retinitis Pigmentosa Genetic Test: Inherited Eye Disease Genes and Results
A retinitis pigmentosa genetic test searches for inherited variants that damage retinal photoreceptors or supporting cells. Retinitis pigmentosa (RP) is not one disease caused...
Sickle Cell Genetic Test: HBB Gene, Trait, Disease, and Results
A sickle cell genetic test analyzes the HBB gene, which provides instructions for beta-globin, one part of adult hemoglobin. The classic sickle variant changes...
Spinal Muscular Atrophy (SMA) Carrier Test: SMN1 Gene, Copy Number, and Results
A spinal muscular atrophy carrier test estimates whether a person has a nonworking copy of SMN1, the main gene responsible for 5q spinal muscular...
Standard Carrier Screening Panel: Cystic Fibrosis, SMA, Fragile X, and Results
A standard carrier screening panel commonly combines tests for cystic fibrosis, spinal muscular atrophy, and Fragile X syndrome. The three conditions are grouped for...
Stargardt Disease Genetic Test: ABCA4 Gene Mutations and Results
A Stargardt disease genetic test looks for the molecular cause of an inherited macular disorder that can begin in childhood, adolescence, or adulthood. Most...
Tay-Sachs Disease Carrier Test: HEXA Gene, Enzyme, and Results
Tay-Sachs carrier testing can involve two complementary kinds of evidence: the activity of beta-hexosaminidase A enzyme and analysis of the HEXA gene. Both aim...
Tuberous Sclerosis Genetic Test: TSC1, TSC2 Genes, Risk, and Results
A tuberous sclerosis genetic test analyzes TSC1 and TSC2 for variants that disrupt regulation of cell growth. A pathogenic or likely pathogenic variant in...
Wilson Disease Genetic Test: ATP7B Gene Mutations, Copper, and Results
A Wilson disease genetic test searches ATP7B for variants that impair the body’s ability to move copper into bile and incorporate it normally into...
X-Linked Carrier Screening Test: Female Carrier Risk and Results
X-linked carrier screening looks for disease-associated changes in genes located on the X chromosome. It is often discussed as a reproductive test for women,...
Autoimmune Disease Genetic Risk Test: HLA, Immune Genes, and Results
An autoimmune disease genetic risk test looks for inherited DNA differences linked to conditions in which the immune system attacks the body’s own tissues....
Common Variable Immunodeficiency (CVID) Genetic Test: Immune Disorder Genes and Results
A common variable immunodeficiency genetic test searches for inherited or newly occurring DNA variants that can cause a CVID-like immune disorder. It may examine...