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Clinical Cytomolecular Genetics Test

Clinical cell molecular genetics testing is a molecular diagnostic technique commonly used in modern clinical medical laboratory. It uses molecular biology techniques to detect genetic material in various human specimens, including chromosome morphology, gene mutations in genes, and genes. Classification, gene quantification, etc., reflect the body's pathogenic factors, disease status, disease changes and other aspects, and have very important value for clinical disease diagnosis, disease observation, prognosis judgment, disease risk assessment, individualized medication guidance, etc. . At present, Shanghai Medical Laboratory can carry out HLA genotyping detection, cell morphology analysis, etc.; Shenzhen Medical Laboratory can carry out HLA genotyping detection, cell morphology analysis, karyotype analysis, FISH and so on.

01.

HLA Genotyping Assay

HLA(Human Leucocyte antigen, HLA):Human leukocyte antigen, a highly polymorphic complex expressed by a series of tightly linked gene loci, is located on the short arm of human chromosome 6. The revealing of the nature and function of HLA provides an important theoretical basis for transplantation matching. Transplantation of donor and recipient HLA with high resolution can improve patient survival. The higher the degree of agreement between donors and recipients, the lower the chance of rejection and graft-versus-host disease, and vice versa. The use of molecular biology methods for HLA typing has been increasingly used in clinical medical services, such as allogeneic organ transplantation and hematopoietic stem cell transplantation.

Applicable people: patients with blood diseases, immune system diseases and their donors, organ transplant recipients Clinical significance: HLA-matched transplantation will reduce the rate of implant failure and improve the quality of life of patients. The higher the degree of HLA compatibility, the earlier the transplant and the higher the patient survival rate. In addition, many studies have reported that HLA is also significantly associated with maternal and child immune responses, progression of major diseases such as cancer and diabetes, and pharmacogenomics.

02.

Cell morphology analysis

Many blood diseases, based on the cell morphological characteristics of hematopoietic tissues such as blood or bone marrow, combined with immunology, cytogenetics, molecular biology and other means, can make reliable diagnosis and provide an important basis for definitive diagnosis. Not only that the dynamic changes in morphology can be observed as an important indicator of the efficacy of certain blood diseases.

Applicable people: newly diagnosed patients with blood diseases for disease diagnosis; post-treatment blood disease patients for efficacy evaluation Clinical significance: found abnormal blood cell structure and morphology; understanding the state of bone marrow hematopoietic function; assisted detection of hematopoietic system diseases

03.

Karyotype analysis (R banding)

Karyotype refers to the phenotype of the genome in the middle of mitosis, including the sum of chromosome number, size, and morphological characteristics. The karyotype analysis refers to the process of pairing, numbering and grouping the chromosomes of the cells to be tested according to the inherent chromosomal structural characteristics of the organism according to certain regulations, and performing morphological analysis.

Applicable people: patients with clinically suspected leukemia who need to be diagnosed and typed. Clinical significance: using chromosome high-resolution banding technique to determine specific chromosomal abnormalities in leukemia

04.

Chromosome fluorescence in situ hybridization (FISH) analysis

FISH technology can directly and stably detect changes in specific genes. The transformation of normal cells into tumor cells is inevitably accompanied by changes in internal genes, and this change is often earlier than the expression of related proteins and clinical symptoms. Therefore, the detection of changes in genes can better predict disease progression.

For people: Clinical significance: detection of chromosome and gene abnormalities from the genetic perspective; identification of early recurrence after transplantation, diagnosis of blood diseases, prognosis, efficacy detection and micro-residue detection.

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