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Nucleic acid mass spectrometry detection service

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MassARRAY is based on Matrix Assisted Laser Desorption /Ionization-Time of Flight (MALDI-TOF) technology, and is the global original nucleic acid mass spectrometry platform for high precision DNA qualitative analysis. This technology platform

Perfectly integrates the high sensitivity of PCR technology, the high throughput of chip technology,the high accuracy of mass Spectrometry technology and the powerful function of computer Intelligent analysis, which is the best tool for large sample size Verification of a large number of candidate SNP and DNA methylation markers discovered by sequencing and chip technology.The MassARRAY system provides a unique solution for targeted gene detection using limited samples. It can meet the assay design, validation and performance needs of genomics laboratories.

 

Technology Principle

The MassARRAY time-of-flight mass spectrometry detection system consists of a matrix-assisted laser desorption ionization (MALDI) source, a time-of-flight mass analyzer (TOF), and a template preparation plate.The principle of MALDI is to irradiate a co-crystalline film formed by the sample and matrix with a laser, and the matrix absorbs energy from the laser and transmits it to the biomolecules, causing them to ionize.The principle of TOF is Biomolecules are ionized and accelerated through the flight tube by an electric field, and the mass-to-charge ratio of the ions is proportional to the ion's time of flight.

The system is extremely accurate and fast, allowing multiple samples to be tested at one time. Multiplex PCR amplification is first performed, followed by single-base extension with modified ddNTP, enabling the mass spectrometry system to accurately identify differences in individual bases and report the frequency of each base according to peak area, and thus accurately analyze the frequency of allele distribution in the sample.

Application scope

Detection of variant types :.

a.SNPs/SNVs (point mutations)

b.Indels (insertion/deletion mutations)

c.CNVs (copy number variants)

d.Gene Fusions

e.Methylations

Main application areas

a.Suitable for genome-wide SNP association studies and subsequent large sample size validation

b. Susceptibility gene analysis and gene localization for complex diseases

c.High sensitivity analysis of somatic mutations

d. Population genetics studies

e. Pharmacogenomics (drug development and individual drug use)

f. Other: pathogenic microbial detection, health management, biological sample identification, etc.

 

Available tests

Skin type genetic test

Advanced tumor susceptibility gene test for men(six items)

Metabolic genetic test

Advanced tumor susceptibility gene test for women (seven tests)

Weight and health management gene test

Deafness gene test

Scientific exercise gene test   

Folic acid gene test

Breast cancer susceptibility gene test

Gene test for hypertension

Basic five tumor susceptibility gene test

Epilepsy gene test

Cardiovascular disease gene test 

 

 

 

 

 

 

Project advantages

a. Multiplex reactions, fast detection cycle

Single reactions up to 10 to 60 assays and only simple PCR and extension reagents are required, no fluorescent probes are needed and the project lead time is within 5 working days.

b.High accuracy and sensitivity

Typing accuracy >99.7%, which is the gold standard for SNP detection; detection sensitivity up to 0.1% for low frequency alleles and rare mutations.

c.Flexible throughput

The standard 96 chips are available to meet the needs of different detection volumes, and the samples can be tested on the machine without making up samples.

d. High sample compatibility

Each reaction well requires only 5-10ng of genomic DNA, and supports biological samples from various sources: blood, blood collection cards, oral swabs, saliva, semen, fresh tissue, puncture tissue and FFPE samples, seeds, roots, leaves, etc. Even highly degraded samples can be tested.

e. Support different types of marker detection for a wide range of applications

It can detect SNP, point mutation, In/Del, CNV, gene fusion and methylation and many other variant types, which can be applied to genetic diseases, solid tumors and liquid biopsies, pharmacogenomics and many other fields.

Case 1 Genetic Disease Screening: Newborn Hearing Loss Related Gene Screening

Hearing disability is the most common type of disability in China. Among all types of deafness-causing genes, genetic factors account for approximately 60% of congenital severe hearing loss. Conventional newborn hearing screening misses late onset and progressive hearing impairment, but deafness genetic testing can detect and clarify its cause early, especially drug-sensitive deafness and late-onset deafness, thus compensating for the shortcomings of traditional physical hearing screening and improving the ability of early diagnosis and intervention of hearing impairment.

A cohort of 58,397 newborns born from December 2011 to December 2012 in 44 hospitals in Tianjin were screened for 20 hotspot hearing loss-associated mutated genes including GJB2, GJB3, SLC26A4 and MTRNR1 (12S rRNA). 3225 (5.52%) infants were detected to carry at least one mutated allele in GJB2, GJB3, SLC26A4 or MTRNR1. Thirty-four (0.58‰) infants had hearing loss due to GJB2 or SLC26A4 mutations (pure or compound heterozygotes). 54 (0.93‰) infants were heterozygous for various genes. 109 (1.87‰) infants had pathological mitochondrial DNA mutations.

Reference:Newborn hearing concurrent genetic screening for hearing impairment-a clinical practice in 58,397 neonates in Tianjin, China.

 

Case 2 Genetic Disease Screening: Screening for Common Mutations in Chinese Phenylketonuria Patients Using the IPLEX Method

Phenylketonuria (PKU) is a common autosomal recessive metabolic disorder that can be caused by mutations in the phenylalanine hydroxylase PAH gene. Traditional analytical methods such as Sanger sequencing and second-generation sequencing are not suitable for screening in high-risk areas due to their high cost and time-consuming nature. In this study, a panel was developed by the MassARRAY iPLEX method for the detection of 29 common PAH gene variants, which can cover 66.5%-72.6% of patients in the Chinese population. The authors tested 50 confirmed patients using this method and showed that this 29-panel can detect 100% of the predefined variants.

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ReferenceScreening of PAH Common Mutations in Chinese Phenylketonuria Patients Using iPLEX MALDI-TOF MS。

 

Case 3 Effect of gene polymorphisms on methotrexate therapy in Chinese patients with psoriasis

Methotrexate (MTX) is the mainstay of psoriasis treatment in China, and the metabolism of MTX in the human body involves multiple genes. Previous studies have shown that genetic polymorphisms significantly affect the efficacy of MTX. In this study, the relationship between genetic polymorphisms and drug efficacy was investigated in a Chinese population. The authors recruited 259 patients, each treated with MTX for at least 8 weeks, and divided them into treatment effective and ineffective groups based on the Psoriasis Symptom Area and Severity Scale (PASI75). 16 SNPs were analyzed using the MassARRAY iPLEX method, and a variant locus in the ABCB1 gene was confirmed to be associated with MTX efficacy in patients with moderate to severe disease.

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 Reference:The Impacts of Gene Polymorphisms on Methotrexate in Chinese Psoriatic Patients。

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1. Tissue samples

-20℃ or -80℃ low temperature refrigerator storage, liquid nitrogen or dry ice transport;ce bag can be used during in-city or short distance transportation. If the material provided is fresh tissue, blood cells and other biological materials, please provide enough material to extract more than 2ug of genome DNA.

2. DNA sample

Volume ≥ 20ul, concentration ≥ 20ng/ul, total DNA ≥ 2ug, purity OD260/280 between 1.7~1.9, no PCR inhibitor, exact concentration must be indicated. Samples should be transported in low-temperature ice bags.

3. Blood samples

The samples must be stored in EDTA anticoagulation tubes or lyophilization tubes, the volume is greater than 2ml. Please use dry ice to transport, to ensure that the DNA is not degraded.

4. Oropharyngeal swabs

Use self-sealing bags, transport at room temperature, pay attention to pressure and rupture prevention. it is recommended to send two tubes per sample at a time.

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