Genetic Studies

Prenatal screening tests

1. Double Marker

   A prenatal screening test performed during the first trimester to assess the risk of fetal abnormalities, including Down syndrome (Trisomy 21) and Trisomy 18. It measures the levels of two substances in the mother's blood: Human Chorionic Gonadotropin (hCG) and Pregnancy-Associated Plasma Protein-A (PAPP-A). Abnormal levels can indicate an increased risk of these chromosomal conditions. The test is non-invasive and helps identify high-risk pregnancies, allowing for further diagnostic testing and early intervention if necessary.

2. Triple Marker

   A prenatal screening performed during the first trimester to assess the risk of certain fetal abnormalities, including Down syndrome (Trisomy 21), Trisomy 18, and neural tube defects (such as spina bifida). It measures the levels of three substances in the mother's blood: Human Chorionic Gonadotropin (hCG), Alpha-fetoprotein (AFP), and Unconjugated Estriol (uE3). While the test is non-invasive, it helps identify high-risk pregnancies, allowing for early intervention and further diagnostic testing, such as amniocentesis or ultrasound.

3. Quadruple Marker

   A prenatal screening performed during the second trimester to assess the risk of fetal abnormalities, including Down syndrome (Trisomy 21), Trisomy 18, neural tube defects, and other chromosomal disorders. It measures four substances in the mother's blood: Alpha-fetoprotein (AFP), Human Chorionic Gonadotropin (hCG), Unconjugated Estriol (uE3), and Inhibin-A. It provides valuable information to guide further diagnostic testing, such as amniocentesis or ultrasound, and helps make informed decisions regarding prenatal care.

Test details

Scan report & LMP date

Pre-requisites

Clotted blood and serum

Sample

4 days

Report TAT

Not available

Home collection

Who should take the test?

1. All pregnant women

   01

   Routine testing helps assess the overall health of the pregnancy.

2. Women over 35

   02

   Older pregnant women are at higher risk of certain complications, like Down syndrome and other chromosomal abnormalities.

3. Family history of genetic disorders

   03

   Those with a history of genetic conditions or congenital birth defects may need further testing.

4. Previous pregnancy complications

   04

   Testing is especially important for women with a history of miscarriages, preterm labor, or other pregnancy-related complications.

5. Gestational diabetes or hypertension

   05

   These conditions may require ongoing monitoring throughout pregnancy.

Karyotyping is a genetic study that examines the number, structure, and appearance of chromosomes in cells. It is crucial for diagnosing chromosomal disorders like Down syndrome, Turner syndrome, and Klinefelter syndrome, where there are abnormalities in the number or structure of chromosomes.

Karyotyping is also used to investigate recurrent miscarriages, unexplained infertility, and certain cancers, as chromosomal changes may contribute to these conditions. During pregnancy, karyotyping can detect chromosomal abnormalities in the fetus, offering valuable information for prenatal care. It plays an important role in genetic counseling, helping families understand the genetic risks of passing on chromosomal disorders.

Sequencing studies in diagnostics are advanced genetic testing techniques that analyze the sequence of DNA or RNA to identify genetic variations, mutations, or abnormalities. These studies provide deep insights into genetic disorders, infectious diseases, and cancer, helping clinicians make more accurate diagnoses and tailor personalized treatment plans.

Next-Generation Sequencing (NGS) is a revolutionary technology in diagnostics that allows for the rapid sequencing of large portions of the genome or even the entire genome. NGS enables the identification of genetic mutations, variations, and abnormalities with high accuracy and sensitivity, providing comprehensive genetic insights across a variety of diseases.

NGS in diagnostics

1. Genetic Disorder Diagnosis

   01

   Identifying mutations in genes responsible for inherited conditions, such as cystic fibrosis, muscular dystrophy, and Huntington's disease.

2. Cancer Diagnostics

   02

   Identifying genetic mutations in tumors, providing essential information for personalized cancer treatments, including targeted therapies and immunotherapies.

3. Infectious Disease Detection

   03

   Sequencing the DNA or RNA of pathogens to identify bacteria, viruses, and fungi. This is crucial for detecting infections like HIV, tuberculosis, and emerging viruses like COVID-19.

4. Rare and Undiagnosed Diseases

   04

   Aiding the diagnosis of rare or complex diseases, especially when traditional methods fail, by detecting previously unknown genetic variants.

5. Pharmacogenomics

   05

   Identifying genetic variations that influence how individuals metabolize and respond to medications, allowing for more personalized and effective treatments.

6. Prenatal Testing

   06

   Non-invasive prenatal testing to detect genetic conditions such as Down syndrome or other chromosomal abnormalities in the fetus.

Diagnostic tests related to sequencing in clinical areas like genetics, oncology, infectious diseases, and rare diseases can be analyzed and reported.