What are the application scenarios for genetic testing sampling kits?

2025/02/07Class Product Gene Sample news Test Kit Genetic testing sampling kit00

Healthcare Field
- Disease Diagnosis and Classification
  - Detection of Monogenic Genetic Diseases
    Gene – testing sampling kits can be used to collect DNA samples from individuals suspected of having monogenic genetic diseases, such as cystic fibrosis, Huntington’s disease, and Duchenne muscular dystrophy. By detecting specific disease – causing genes, it can be determined whether there are gene mutations, thus providing a direct basis for disease diagnosis. For example, when detecting Huntington’s disease, the focus is on the abnormal expansion of the CAG trinucleotide repeat sequence in the HTT gene. If it exceeds the normal range, a diagnosis can be made.
  - Risk Assessment of Complex Diseases
    For complex diseases such as cancer, cardiovascular diseases, and diabetes, the kits can collect samples for analyzing the polymorphisms of multiple gene loci. Take breast cancer as an example. By detecting the mutation status of genes such as BRCA1 and BRCA2, the genetic risk of an individual developing breast cancer can be evaluated. If a mutated gene is detected, relatives of the patient can also be tested to achieve early detection and prevention.
  - Precision Medicine in Oncology
    In cancer treatment, the kits can be used to collect tumor tissue or blood samples. For patients with solid tumors, after obtaining tumor tissue samples, mutations (such as genes like EGFR, ALK, and ROS1 in lung cancer), gene fusions, etc. are detected, providing a basis for the selection of targeted therapeutic drugs. For patients with hematological malignancies, the detection of circulating tumor DNA (ctDNA) is used to monitor minimal residual disease (MRD), evaluate treatment efficacy, and predict the risk of recurrence.
- Applications in Pharmacogenomics
  The kits help determine an individual’s response to drugs. For example, when using the anticoagulant drug warfarin, by collecting the patient’s DNA sample and analyzing the polymorphisms of genes CYP2C9 and VKORC1, doctors can predict the patient’s drug – metabolizing ability, and then adjust the appropriate drug dosage to avoid adverse drug reactions and achieve personalized and precise medication.
Genetic Counseling and Reproductive Health Field
- Carrier Screening
  - Detection of Carriers of Autosomal Recessive Genetic Diseases
    The kits can be used to detect whether individuals are carriers of autosomal recessive genetic diseases, such as phenylketonuria and spinal muscular atrophy (SMA). In pre – marriage or pre – pregnancy examinations, the DNA of both parties is collected using gene – testing sampling kits to detect whether they carry the disease – causing genes. If both husband and wife are carriers of the same autosomal recessive genetic disease, the probability of their child having the disease increases significantly. At this time, further prenatal diagnosis or assisted reproductive technologies can be used to reduce the risk.
  - Detection of Carriers of X – linked Genetic Diseases
    For X – linked genetic diseases, such as Fragile X syndrome and hemophilia, women can be tested to determine whether they are carriers. For families with a family history of genetic diseases, this allows them to be aware of the risks in advance in their family planning and take corresponding measures, such as pre – implantation genetic diagnosis (PGD) or prenatal diagnosis.
- Prenatal Diagnosis and PGD
  - Prenatal Diagnosis
    During pregnancy, gene – testing sampling kits are used to collect amniotic fluid, chorionic villus samples, or fetal free DNA (cffDNA) in the peripheral blood of pregnant women. For chromosomal numerical abnormalities (such as Down syndrome), chromosomal structural abnormalities, and monogenic genetic diseases, prenatal diagnosis can be carried out. By detecting the genetic condition of the fetus, information about the health of the fetus is provided to the family, enabling parents to make a rational decision regarding the pregnancy.
  - PGD
    In assisted reproductive processes, through embryo biopsy, gene – testing sampling kits are used to collect embryo cells for genetic testing, and embryos without genetic diseases are selected for implantation. This provides an opportunity for couples with a family history of genetic diseases to have healthy children and effectively avoids the transmission of genetic diseases.
Forensic Identification Field
- Individual Identification
  - Crime Scene Investigation
    In criminal cases, biological samples such as blood, semen, hair, and saliva are collected from the crime scene, and the DNA in them is collected using gene – testing sampling kits. These samples are compared with the DNA of suspects or DNA samples in the database to determine the individual to whom the biological evidence at the crime scene belongs, helping the police identify the suspect.
  - Identity Identification in Disaster Incidents
    After large – scale disasters (such as earthquakes, fires, and plane crashes), the bodies may be severely damaged, making it difficult to identify them through conventional methods such as appearance. At this time, gene – testing sampling kits can be used to collect DNA from the remains of the deceased or the biological samples remaining on their belongings, and compare it with the DNA samples provided by family members or the information in the database to determine the identity of the victims.
- Paternity Testing
  In civil cases or family affairs involving disputes over parent – child relationships, DNA samples from parents and children are collected and tested using gene – testing sampling kits. Genetic markers such as short tandem repeat sequences (STRs) are detected, and the probability of the parent – child relationship is calculated to determine the parent – child relationship, providing a scientific basis for judicial decisions or the resolution of family issues.