Technical Services

Rare Disease Detection


Rare disease detection background

The WHO defines diseases that account for 0.65-1 ‰ of the total population as rare diseases, also known as "orphan disease". About 80% of rare diseases are caused by genetic defects, so rare diseases generally refer to "rare inheritance disease". According to reports, 7,000 rare diseases have been identified, of which about 50% of the rare diseases can occur at birth or childhood, the disease often progresses rapidly, the mortality rate is high, and most have no effective treatment. Therefore, for rare diseases, early screening must be diagnosed and treated early to prevent irreversible disease. Patients cannot be diagnosed based on clinical manifestations alone, and patients in different regions may have different genetic mutation sites. Many genetic diseases are caused by dozens or even hundreds of mutations. Traditional Sanger sequencing cannot meet clinical needs.

Rare Disease Detection Technology Services
Single symptom / clinical manifestations / systematic genetic disease customized panel gene test
Using next-generation sequencing technology, specific capture of DNA fragments of multiple target regions of genes related to a certain disease or clinical manifestations can economically, quickly and accurately find disease-causing genes and mutation sites. Topics covered include: endocrine hypertension (pheochromocytoma, primary aldosteronism, cushing syndrome), special types of diabetes (single gene / mitochondrial diabetes), ion channel diseases (low / high potassium sodium calcium magnesium phosphate) ), Metabolic liver disease, hereditary bone disease and other genetic disease panel detection, comprehensively meet the precise clinical diagnosis and scientific research requirements. The Department of Endocrinology of Peking Union Medical College Hospital and Beijing Hongwei Tes Biotechnology Co., Ltd. ("Beijing Hongwei") have cooperated for more than ten years in the detection of genes related to pheochromocytoma / paraganglioma, and the number of detected cases is close to 500. The development process of the test is shown in the following figure (Figure 1). The positive rate of germline mutation detection results increased from 25% of sanger sequencing to 45% of next-generation sequencing. At the same time, MLPA copy number analysis was performed on SDHx and VHL genes, and peripheral blood A preliminary study of ctDNA has been performed, and its test results have provided valuable reference for clinical diagnosis, treatment, follow-up, early detection of the disease status of family members, and diagnosis and treatment. Currently, many families and individuals have been followed up during follow-up. Benefit from genetic testing.
Detection advantages:
Targeted screening of specific pathogenic genes related to clinical phenotypes; classic and rare mutations of common genes can be found;
Large-scale, high-throughput sequencing of target genes has higher data quality (coverage and depth) than external sequencing, and is more economical and efficient.
Application areas:
Clinically suspected but undiagnosed intractable diseases;

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