Carrier Screening Tests
Genetic carrier screening tests are used to assess whether an individual carries a gene for certain genetic conditions, which could potentially be passed on to their children. These tests typically focus on inherited recessive conditions, where both parents must carry a copy of the gene mutation for the condition to manifest in their offspring.
Here is a list of common genetic carrier screening tests:
1. Cystic Fibrosis (CF)
- Condition: Cystic fibrosis is a progressive genetic disorder that affects the lungs and digestive system.
- Test: A screening for mutations in the CFTR gene.
2. Tay-Sachs Disease
- Condition: Tay-Sachs is a fatal genetic disorder that causes progressive nerve damage, most often in infants.
- Test: A screening for mutations in the HEXA gene.
3. Sickle Cell Anemia
- Condition: Sickle cell disease is a blood disorder in which red blood cells become misshapen, leading to pain, anemia, and other complications.
- Test: A screening for hemoglobinopathies, including sickle cell trait and sickle cell disease.
4. Spinal Muscular Atrophy (SMA)
- Condition: SMA is a genetic disorder that affects motor neurons, leading to muscle weakness and atrophy.
- Test: A screening for mutations in the SMN1 gene.
5. Fragile X Syndrome
- Condition: Fragile X is a genetic condition that causes intellectual disabilities and behavioral issues, primarily in males.
- Test: A screening for mutations in the FMR1 gene.
6. Hemophilia
- Condition: Hemophilia is a blood disorder where blood doesn't clot properly, leading to excessive bleeding.
- Test: A screening for mutations in the F8 or F9 gene (for hemophilia A and B).
7. Alpha-Thalassemia
- Condition: Alpha-thalassemia is a blood disorder that results in the abnormal production of hemoglobin, leading to anemia.
- Test: A screening for mutations in the HBA1 or HBA2 gene.
8. Beta-Thalassemia
- Condition: Beta-thalassemia is a blood disorder resulting in reduced hemoglobin production and anemia.
- Test: A screening for mutations in the HBB gene.
9. Wilson's Disease
- Condition: Wilson's disease is a genetic disorder where excess copper builds up in the body, leading to liver and brain damage.
- Test: A screening for mutations in the ATP7B gene.
10. PKU (Phenylketonuria)
- Condition: PKU is a metabolic disorder where the body cannot break down phenylalanine, leading to brain damage if untreated.
- Test: A screening for mutations in the PAH gene.
11. Jewish Genetic Disorders (e.g., Gaucher Disease, Bloom Syndrome, Canavan Disease, and Familial Dysautonomia)
- Condition: Several genetic disorders are more common among Ashkenazi Jewish populations, including Gaucher disease, Bloom syndrome, Canavan disease, and familial dysautonomia.
- Test: Various screenings depending on the specific disorder.
12. Mucopolysaccharidoses (MPS)
- Condition: MPS refers to a group of metabolic disorders that affect the body's ability to break down complex carbohydrates, leading to progressive damage in various organs.
- Test: A screening for mutations in various MPS genes.
13. Ciliopathies (e.g., Primary Ciliary Dyskinesia)
- Condition: Ciliopathies are genetic conditions affecting the cilia, which are tiny hair-like structures in the body. Primary Ciliary Dyskinesia can lead to chronic respiratory infections and infertility.
- Test: A screening for mutations in genes related to ciliary function.
14. Mitochondrial Disorders
- Condition: Mitochondrial disorders are caused by mutations in the mitochondrial DNA, leading to energy production issues and affecting various systems, including muscles and the nervous system.
- Test: Screening for specific mitochondrial gene mutations.
15. Hereditary Breast and Ovarian Cancer (e.g., BRCA1/BRCA2)
- Condition: Mutations in the BRCA1 or BRCA2 genes increase the risk of breast, ovarian, and other cancers.
- Test: Screening for mutations in the BRCA1 and BRCA2 genes.
16. Congenital Adrenal Hyperplasia (CAH)
- Condition: CAH is a group of genetic conditions that affect the adrenal glands, leading to imbalances in hormones.
- Test: A screening for mutations in the CYP21A2 gene.
17. Lysosomal Storage Disorders (LSDs)
- Condition: LSDs are a group of inherited metabolic disorders where there is an accumulation of toxic substances due to enzyme deficiencies.
- Test: Screening for various enzymes and genes associated with LSDs.
18. X-Linked Genetic Disorders (e.g., Duchenne Muscular Dystrophy)
- Condition: These disorders are typically seen in males and are linked to mutations on the X chromosome.
- Test: Screening for mutations in the DMD gene (for Duchenne muscular dystrophy).
19. Neurofibromatosis Type 1
- Condition: Neurofibromatosis type 1 is a genetic disorder that causes tumors to form on nerve tissue.
- Test: Screening for mutations in the NF1 gene.
20. Achondroplasia
- Condition: Achondroplasia is a form of dwarfism caused by a mutation in the FGFR3 gene.
- Test: A screening for mutations in the FGFR3 gene.
21. Hereditary Hemochromatosis
- Condition: Hemochromatosis is a condition where too much iron builds up in the body.
- Test: A screening for mutations in the HFE gene.
22. Neonatal Diabetes
- Condition: Neonatal diabetes is a rare form of diabetes that appears in infants or young children.
- Test: Screening for mutations in genes like KCNJ11 and ABCC8.
These tests are usually offered as part of preconception or prenatal screening, and the specific conditions included may vary depending on ethnicity, family history, and geographic location.
