Here are some common genetic test names:
1. Amniocentesis: Tests fetal DNA for genetic disorders during pregnancy.
2. Chorionic Villus Sampling (CVS): Tests fetal DNA for genetic disorders during pregnancy.
3. Karyotype: Analyzes chromosomes for genetic abnormalities.
4. Microarray: Identifies genetic changes associated with developmental delays or intellectual disability.
5. Genetic Panel: Tests for specific genetic disorders or mutations (e.g., BRCA for breast cancer).
6. Whole Exome Sequencing (WES): Analyzes protein-coding regions of DNA for genetic mutations.
7. Whole Genome Sequencing (WGS): Analyzes entire DNA sequence for genetic mutations.
8. Newborn Screening: Tests for genetic disorders in newborns (e.g., PKU, sickle cell disease).
9. Carrier Testing: Identifies genetic mutations that can be passed to offspring.
10. Prenatal Testing: Tests for genetic disorders during pregnancy (e.g., non-invasive prenatal testing (NIPT)).
The Prenatal Test is a type of NIPT that can detect several chromosomal conditions as early as 10 weeks of gestation. It is highly accurate and can assess sex chromosome anomalies, including Turner and Klinefelter syndromes. The test is suitable for both single and twin pregnancies.
11. Genetic Mutation Analysis: Tests for specific genetic mutations (e.g., Huntington’s disease).
12. Next-Generation Sequencing (NGS): Analyzes multiple genes or entire genome for genetic mutations.
13. Double Markar : The double marker test or the dual marker test is actually a maternal serum screening test. Doctors perform this test in the 1st trimester of the gestation period. It helps to scan the amount of b-human Chorionic Gonadotropin (a pregnancy hormone) & Pregnancy Associated Plasma Protein in erythrocytes.
Why is a double marker test done during pregnancy?
The double marker test helps determine whether the unborn baby has any risk of developing neurological abnormalities or mental disorders. It detects Down syndrome or Trisomy 21, Trisomy 18, and Trisomy 13, which cause mental and physical challenges in the baby.
In which month is the double marker test done?
Recommended for pregnant women as this test helps in the determination of any chromosomal malformation in the foetus. This test helps in screening the fetus for any abnormalities before birth. It can be done from 9 to 13 weeks of pregnancy but the ideal time for combined risk assessment is 11 to 13 weeks.
14. Quadruple screen test :The quadruple screen test is a blood test done during pregnancy to determine whether the baby is at risk for certain birth defects. A blood test can be performed between the 15th and 22nd weeks of the pregnancy to determine whether the baby is at risk for certain birth defects.
When is the best time to do the quadruple test?
This test is most often done between the 15th and 22nd weeks of the pregnancy. It is most accurate between the 16th and 18th weeks. A blood sample is taken and sent to the lab for testing.