Gene testing sampling kits play a significant role in various fields. The following is a detailed introduction:

Medical and Health Field

• Disease Diagnosis
  • Single – gene Inherited Disease Detection
    For inherited diseases caused by mutations in a single gene, such as cystic fibrosis and thalassemia, gene testing sampling kits can be used to collect patient samples and detect mutation sites in specific genes, assisting doctors in making accurate diagnoses. For example, in the diagnosis of sickle – cell anemia, blood samples are collected to detect mutations in the β – globin gene, thereby determining whether the patient has the disease.
  • Complex Disease Risk Assessment
    Many common complex diseases, such as cardiovascular diseases, diabetes, and cancer, are caused by the combined effects of genes and environmental factors. Gene testing sampling kits can collect samples to detect polymorphisms in related genes and assess an individual’s genetic risk of developing these diseases. Take breast cancer as an example. Detecting mutations in the BRCA1 and BRCA2 genes can help doctors evaluate a woman’s risk of developing breast cancer.
  • Precision Cancer Treatment
    In cancer treatment, gene testing sampling kits are used to obtain samples of tumor tissue or circulating tumor cells (CTCs) and circulating tumor DNA (ctDNA) in the blood. Through genetic testing of these samples, the gene mutations, gene fusions, etc. of the tumor are analyzed to develop personalized treatment plans for patients, including the selection of appropriate targeted drugs and immunotherapy drugs. For example, in non – small – cell lung cancer patients, the mutation status of the EGFR gene is detected. If a sensitive mutation is present, targeted drugs against EGFR can be used for treatment.
• Drug Treatment
  • Pharmacogenomic Testing
    After collecting samples with a gene testing sampling kit, genes related to drug – metabolizing enzymes, drug targets, and drug transporters in individuals can be detected. Based on the test results, doctors can predict a patient’s response to specific drugs, such as the efficacy and adverse reactions of the drug, thus achieving personalized medication. For example, before warfarin treatment, detecting polymorphisms in the CYP2C9 and VKORC1 genes helps determine the appropriate drug dosage, avoiding excessive drug use leading to bleeding or insufficient dosage affecting the treatment effect.

Scientific Research Field

• Genetics Research
  • Human Genetics Research
    In the study of human gene function, gene expression regulation, and genetic variation, gene testing sampling kits are important tools for collecting a large number of samples. Researchers can use them to collect DNA samples from different populations for genome – wide association studies (GWAS), searching for gene loci associated with human traits (such as height, skin color, intelligence, etc.) and diseases. For example, in the study of the genetic factors of Alzheimer’s disease, a large number of case and control samples are collected using sampling kits, and through GWAS, multiple gene regions related to the disease are discovered.
  • Model Organism Genetics Research
    When conducting genetic research on model organisms such as mice and Drosophila, gene testing sampling kits can be used to collect tissue or cell samples from these organisms. Through genetic analysis of the samples, the role of genes in development, physiological functions, and disease models is studied. For example, in the study of mouse embryonic development, sampling kits are used to collect embryonic tissue samples to analyze the expression and mutation of development – related genes.
• Drug R & D
  • Drug Target Discovery
    In the early stages of new drug development, gene testing sampling kits can be used to collect samples from diseased tissues and normal tissues. By comparing the gene expression differences between the two, potential drug treatment targets are identified. For example, in the research and development of anti – tumor drugs, the gene expression differences between tumor tissues and normal tissues are analyzed to discover genes that are highly expressed specifically in tumors, which may become new anti – tumor drug targets.
  • Drug Efficacy and Safety Assessment
    During clinical trials of drugs, gene testing sampling kits can collect samples from subjects to detect genetic markers related to drug responses, evaluating the efficacy and safety of the drugs. This helps screen out patient groups with a good response to the drug, improving the success rate of clinical trials. At the same time, it can also identify individuals who may experience serious adverse reactions in advance.

Forensic Identification Field

• Individual Identification
  • Physical Evidence Identification at Crime Scenes
    In criminal cases, gene testing sampling kits can be used to collect biological samples at crime scenes, such as bloodstains, hairs, semen, and saliva. Through genetic testing of these samples and comparison with the DNA samples of suspects or victims, the identity of the individual can be determined, providing key evidence for solving the case. For example, in a rape case, the semen samples left at the scene are collected, and through genetic testing and comparison with the suspect’s DNA, it can be determined whether the suspect was present at the crime scene.
  • Identification of Disaster Victims
    After natural disasters or major accidents, the bodies may be severely damaged, making it difficult to identify the identity through traditional methods. Gene testing sampling kits can collect tissue samples from the victims and compare them with the DNA samples provided by their families to determine the identity of the victims, helping the families with post – disaster arrangements.
• Kinship Identification
  • Paternity Testing
    Gene testing sampling kits are used to collect blood, oral swab, and other samples from parents and children. By detecting genetic markers and calculating the probability of kinship, the parent – child relationship can be determined. In legal matters such as inheritance, immigration, and custody disputes, the results of paternity testing have important legal evidential value.
  • Family Pedigree Reconstruction
    By collecting samples from family members and using gene testing sampling kits for genetic testing, the kinship between family members is analyzed to reconstruct the family pedigree. This is of great significance in historical research and the tracking of family – inherited diseases.

Reproductive Health Field

• Pre – pregnancy Examination
  • Carrier Screening
    Before planning to conceive, couples can use gene testing sampling kits to collect blood or saliva samples to detect whether they are carriers of certain recessive genetic diseases. For example, the carrier status of diseases such as cystic fibrosis and spinal muscular atrophy (SMA) is detected. If both couples are carriers of the same recessive genetic disease, the risk of their child having the disease will increase significantly. Through testing, genetic counseling and reproductive planning can be carried out in advance.
  • Chromosome Abnormality Detection
    For couples with a history of adverse pregnancy outcomes or for advanced – age pregnant women, gene testing sampling kits can be used to collect samples for the examination of the number and structure of chromosomes, such as detecting the risk of chromosomal diseases like Down syndrome (trisomy 21). This helps to detect possible chromosomal abnormalities in the fetus in a timely manner, providing a reference for subsequent prenatal diagnosis or assisted reproductive technologies.
• Prenatal Diagnosis
  • Non – invasive Prenatal Testing (NIPT)
    During pregnancy, the peripheral blood of pregnant women is collected using a gene testing sampling kit, and the fetal free DNA in it is extracted to detect fetal chromosomal abnormalities, such as trisomy 21, trisomy 18, and trisomy 13 syndromes. This testing method is non – invasive and has a lower risk to the pregnant woman and the fetus compared to traditional prenatal diagnostic methods such as amniocentesis and chorionic villus sampling.
  • Pre – implantation Genetic Diagnosis (PGD) and Screening (PGS)
    In the process of assisted reproductive technologies (such as in vitro fertilization), gene testing sampling kits can be used to collect embryo cell samples for genetic testing. PGD is mainly used to detect whether the embryo carries known single – gene genetic disease genes, and PGS is used to screen for chromosomal number and structural abnormalities in the embryo. Healthy embryos are selected for transplantation, improving the success rate of in vitro fertilization and the probability of giving birth to healthy babies.