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Heritable Diseases Standard
Background
CB-Gene is committed to the prevention and control of birth defects, and strives to promote the quality control of the prevention and control of single-gene birth defects. It is the first in China to launch quality control products for single-gene genetic diseases such as thalassemia, deafness, SMA, MMA, G6PD, and FH, which are used in gene screening, prenatal diagnosis and evaluation, etc., to improve the accuracy and efficiency of diagnosis. The products cover a full range of mutation types and are key tools for calibration, verification and quality control in testing.
Product Introduction
 Thalassemia Thalassemia is abbreviated as "thalassemia". It is a hereditary disease that is widely distributed in tropical and subtropical regions. According to the different pathogenic gene mutations, thalassemia can be divided into two categories: α-thalassemia and β-thalassemia. α-thalassemia refers to thalassemia caused by pathogenic mutations in the α-globin gene. Similarly, β-thalassemia is caused by pathogenic mutations in the β-globin gene. |
Hereditary Deafness Hearing impairment is one of the common birth defects of humans. Deafness is caused by genetic factors and/or environmental factors. The causes of deafness are complex, and more than 60% are related to genetic factors. CB-Gene Bio's hereditary deafness standard provides a standardized solution for the entire process of deafness gene mutation detection. It provides accurate and reliable detection solutions for different types of deafness gene mutations and is compatible with a variety of advanced molecular biological detection methods. | |
SMA-SMN1/2 Spinal muscular atrophy (SMA) is an autosomal recessive degenerative neuromuscular disease caused by degeneration of the anterior horn motor neurons of the spinal cord. The main clinical features are muscle weakness and atrophy caused by degeneration and loss of the anterior horn motor neurons of the spinal cord, which can be fatal or disabling. The detection of SMN1/2 gene is of great significance to clinical patients. CB-Gene Bio has launched the SMA-SMN1/2 standard, which has high accuracy, stability and effectiveness, ensuring the accuracy of the test. |
MMA Methylmalonic academia (MMA) is a genetic metabolic disease, mostly autosomal recessive, less often X-linked recessive. MMA is caused by a defect in methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (cobalamin, cbl, Vitmin B12), leading to abnormal accumulation of metabolites such as methylmalonic acid, propionic acid, and methylcitrate in the body, causing damage to multiple organs such as nerves, liver, kidneys, and bone marrow. It is the most common disease among congenital organic acid metabolic disorders in my country. | |
G6PD Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked incomplete dominant genetic disease, which is mostly caused by point mutations that change the spatial structure of the G6PD enzyme, resulting in reduced enzyme activity. It is one of the most common red blood cell enzyme deficiency diseases. Patients often develop the disease due to eating broad beans, commonly known as "favism." |
FH Familial hypercholesterolemia (FH), also known as familial hyperbetalipoproteinemia, is an autosomal genetic disease caused by mutations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin 9 (PCSK9) genes in the lipid metabolism pathway, which leads to a significant increase in serum low-density lipoprotein cholesterol (LDL-C) levels. The clinical features are hypercholesterolemia, characteristic xanthomas, and a family history of premature cardiovascular disease. |
Key Features
Suitable for daily quality control and performance verification.
Can be used as negative and positive quality control products for genetic gene detection kits.
Highly accurate and sensitive, improves the accuracy of test results, and avoids false negatives and false positives.
Cell line raw material preparation, highly simulates patient samples.
Wide range of applications, suitable for PCR, NGS and other platforms.
Strict QC quality inspection, stable quality
