What's the use of genetic testing? What do you mainly test?

1 What's the use of genetic testing?

1)

Auxiliary clinical diagnosis: many diseases have similar symptoms, so it is difficult to differentiate and diagnose them clinically, and it is easy to be confused. If the cause is found at the genetic level through genetic testing, it can assist clinicians in differential diagnosis and even correct clinical diagnosis.

2)

Guiding treatment: the effect of treatment is related to many factors. Looking at the external reasons, the difference in treatment between people is mainly influenced by genetic factors. Genetic testing helps to realize individualized treatment, improve curative effect and reduce the occurrence of adverse reactions.

3)

Carrier screening: The most common screening is Down syndrome. The traditional screening for Down's syndrome is carried out by serological screening, and the detection rate is 65%-75%, which is easy to miss the diagnosis. Noninvasive prenatal genetic testing can accurately screen children with Down syndrome, including 18 trisomy syndrome and 13 trisomy syndrome. In addition, screening related pathogenic genes for high-risk population with family history of some monogenic genetic diseases (especially recessive genetic diseases) can find out the carrying situation of pathogenic genes in this family in time, and then analyze the disease risk of future generations, provide effective genetic information for family members and prevent defective genes from being passed on to the next generation.

4)

Fertility guidance: genetic testing results, combined with different genetic models of diseases, can be used for fertility guidance through genetic counseling. Help to give birth to a healthy baby through prenatal diagnosis (after natural pregnancy) or IVF combined with pre-implantation screening or diagnosis.

5)

To provide accurate matching information for hematopoietic stem cell transplantation, such as thalassemia, mucopolysaccharide storage disease, leukemia and so on. HLA typing is necessary to evaluate the incidence of rejection after transplantation.

What is the main content of genetic testing?

Gene mutations that can be detected by gene detection include: changes in the base composition or arrangement order of gene-specific DNA sequences due to various factors inside and outside the body, resulting in changes in the primary structure of DNA. Gene detection mainly detects various changes of gene sequence, including changes of single base, namely single nucleotide variation (SNV), insertion & deletion of large or small sequence fragments (insertion/deletion of one or more nucleotides in DNA sequence, namely insertion &

Deletion, InDel), copy number variation (CNV) of sequence fragments and structural variation (structure

Variant, SV), dynamic mutation, etc. At present, the main types of mutations detected are single nucleotide mutation (SNV), insertion deletion mutation (InDel) and copy number mutation (CNV).