Newborn metabolic disease test

BGI Health provides newborn testing for inherited metabolic disorders (IMDs) based on the Mass-Sequence technical platform. It allows inexpensive and simultaneous detection of 43 different metabolic disorders including metabolic disorders of amino acid, organic acidemias, fatty acid oxidation deficiency from one dried blood spot specimen in 2 minutes. There are about 20 millions newborns per year in China, and the congenital metabolic defects babies are up to 400,000~500,000. Recently, the data of newborn testing through tandem mass spectrometry shows that the incidence of IMDs is up to 1/3000~1/4000, and some high incidence metabolic disease such as Propionic Acidemia, Methylmalonic Acidemia can only be detected through tandem mass. Early detection of IMDs allows us to optimized treat and manage any detected disorders, and the health of our children is always at the forefront of our minds!

Animo Acids Test

With the latest tandem mass spectrometry technology, BGI can analyze 42 amino acids at one time. Amino acids are biologically important organic compounds, usually in a state of equilibrium, whose metabolic imbalance usually induce or reflect diseases. The detection of amino acid can be used to assess the absorption of protein at nutrition aspect, and also the metabolism level which associate with many chronic diseases.

The detection can assist early warning for endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological diseases, nutritional disorders, renal failure, burns and other disease or symptom assessment; also help to track nutritional status for the sub-health groups and special populations (such as pregnant women).

Many disease such like nutritional deficiencies, metabolic injury and amino acid transport barriers can be identified and prevented by the result of amino acids detection.

Hormones Test

The contents of 17 steroid hormones are detected in human body in one time. The hormones, which are transferred from fat, work together with nervous system to regular metabolism and physiological function, affect human health deeply at low concentration in human body, and play key roles around human life. Their functions in maintaining life, adjusting sex, body development, immune regulation, remedy in skin disease and birth control are researched clearly. In normal conditions, the hormones keep balance in human body. Endocrine disorders are caused once the balance is broken, which can performance kinds of clinical characters, such as gynecological disease, infertility, premature aging, and so on. Hormone detection can let physicians help you accurately to overcome your health challenges, which may return you health and happy life through regained hormone balance, improvement and prevention of chronic diseases and aging.

Vitamins Test

15 vitamins in human peripheral blood, including fat-soluble and water-soluble vitamins, are determinated by liquid chromatography-tandem mass spectrometry (LC-MS/MS). As the component of many enzymes, vitamins are playing important regulatory roles in human growth, development and metabolism. A serious deficiency of specific vitamins will cause night blindness, megaloblastic anemia, osteoporosis, rickets, fetal neural tube defects and other diseases. These diseases can be effectively reversed by early detection and prevention. Experts suggest that people with clinical and subclinical vitamin deficiency symptoms, especially children, pregnant women, the elderly and patients receiving long-term parenteral nutrition, should monitor vitamins nutritional status and implement personalized nutrition interventions for health!

Asthenospermia Detection

Detection of small molecules in semen of asthenospermia patients, such as Citric acid , L-carnitine, Fructose, Zinc, etc.. According to the statistics from civil affairs department, there are 13,024,000 couple be married at a registry in the year of 2011, nearly 1 million men need to be screened for cause or receive further treatment for infertility every year. Fructose is the main energy source of sperm, when the seminal vesicle gland dysfunction, semen volume will inevitably decrease, and the content of fructose in semen will decrease at the same time, which leads to lack of vitality of sperm, and infertility is caused.

Zinc can stable sperm nuclear chromosome. Long-term zinc deficiency will lead to gonadal dysgenesis and hypogonadism. Citric acid as the main secretory product of the prostate, can provide nutrition to sperm, participate in semen liquefaction process,keep osmotic balance of it, maintain appropriate PH to guarantee the normal survival environment for sperm , which plays an important role in sperm vitality. Free L-carnitine in the sperm mainly concentrate highly in epididymis , which directly effects maturation and metabolism process of sperm. Our analysis can provide accurate data analysis and scientific guidance for the treatment of asthenozoospermia.

Intestinal flora metabolites clinical detection

Intestinal flora metabolites in feces such as organic acid, short-chain fatty acid, bile acid are detected to comprehensively evaluate health condition of intestinal environment and offer clinicians useful information. It’s reported that intestinal flora can influence human’s health by producing metabolites. Helpful flora can benefit human in several aspects: 1. suppress harmful flora propagation and resist pathogen infection; 2. synthesize human-essential vitamin and improve mineral absorption; 3. promote intestinal peristalsis and prevent constipation; 4. inhibit intestinal putrefaction, cleanse intestinal environment, decompose cancerogenic substances as well as activate immune system, which help enhance immunity, reduce blood cholesterol level and delay senescence.

Depression Detection

Depression is a kind of mental illness with higher morbidity, mortality, disability and recurrence rate. We have established a liquid chromatography tandem mass spectrometry method to detect depression related metabolic markers, such as urine N-methylnicotinamide, resorcinol monoacetate, alanine and serotonin (a neurotransmitter). And then verify suspected positive samples at protein and DNA level by using quantitative analysis of proteins and gene sequencing technology, aim to establish the trans-omics diagnostic model of depression. The method is rapid, accurate, non-invasive and highly feasible, which is significant for improving the early diagnosis rate and timely intervention of depression.

Autism Detection

According to the latest data available from the U.S. Center for Disease Control, the autism prevalence rate has reached up to 1/50 in 6~17 years old children. Up to now, Autism Scale (M-CHAT) is the most common early screening tool, but it is limited by subjective judgment and other inadequacies. Therefore, establishing an objective and effective method for autism screen is imminent. We use liquid chromatography-mass spectrometry to detect neurotransmitters, oxidative stress and energy metabolism markers that related to autism, including 18 small molecule metabolites in blood and urine, and then verify suspected positive samples at protein and DNA level by using quantitative analysis of proteins and gene sequencing technology, aim to establish the trans-omics diagnostic model of autism. This method is extremely helpful for the early diagnosis, early warning and treatment of autism, which is practical significant for improving the prognosis of autistic children and reducing the social burden.

Breast Milk nutrition test

Detect protein, fat, carbohydrate, microelements, vitamins and other elements in breast milk. The incidence of premature infant is increasing year by year, the estimated ratio is 8.5%-10% until now. Premature infants have become the main patients to the neonate intensive care unit. The growth and mature speed of an infant in mother’s uterus is very fast, in order to achieve ideal growth and mature rate, premature infants are in great need of proficient nutrition support after birth. Breast feeding has a positive effect on premature infant in terms of protection, but breast feeding alone is not sufficient enough to meet the needs of them, among which calories and protein insufficiency are most eminent. In the lack of protein and energy, the long term prognosis, including cerebral diseases, mental retardation, calcium, phosphorus, and vitamin D deficiency, impaired bone maturation, iron deficiency anemia and so on, will increase. At the same time, the components of breast milk have close relationship with the diet of mother and her diseases. Through the detection of carbohydrate, fat, protein, microelements and vitamins in breast milk in healthy mothers who have preterm labor, mothers with pregnancy induced hypertension syndrome and mothers with diabetes, our project will determine whether the breast milk is qualified or not and provide direct references to proper nutrition support and feeding guidance to premature infants. ( e.g. optimize the diet of mother, disease treatment, donate breast milk or intensified formula to support premature infants ), to help increase survival rate of them and improve long term prognosis.