Glucose-6-phosphate dehydrogenase mutation detection kit(PCR- reverse point hybridization)

Brief introduction

Glucose-6-phosphate dehydrogenase(G6PD) deficiency is one of the most common X-chain incomplete genetic diseases in the world, commonly known as broad bean disease. Clinically, it is manifested as neonatal jaundice, broad bean disease, drug-based hemolytic, infectious hemolytic and non-spherical cell hemolytic anemia and other diseases. In children and infants concentrated in the performance of broad bean disease and neonatal jaundice, often more serious, if not timely treatment will endanger the lives of children. About 200 million people worldwide are affected. About 50% of newborns with G6PD deficiency develop neonatal jaundice, and about 12% of them develop nuclear jaundice, leading to brain damage and low intelligence.

1376N	1388N●	487N●	95N●	392N●	871N●	592N ●
1376M●	1388M	487M	95M	392M	871M	1004M●
1381M	1387M	493M	592M	1004M	1024M	1024M●

The significance of genetic testing

A: Genetic testing, the results are accurate and reliable for life.

B: For patients with G6PD gene mutation, clear and targeted medication guidance can be given to avoid contact with drugs that may cause acute hemolysis.

C: Genetic testing can effectively detect female heterozygotes and neonatal hemolysis.

D: Definite family genetic history. Provide guidance on marriage and childbirth and antibiotic medication.

E: Early detection of G6PD deficiency caused by genetic factors. Newborns can start preventive interventions from their mothers.

Comparison of existing clinical testing methodologies

Comparison items	Chemical methods	Melting curve method	Glass chip method	PCR Reverse Point Hybridization (Billion Cube)
Detection accuracy	Unable to detect female hybrids, affected by environmental impact	Small differences in mutation temperature of adjacent sites can lead to miscalculation of results	Chip hybrid conditions are difficult to unify, and specificity needs to be improved	More than 99.9% of conformity with sequencing control results
Detecting sites	No-type	12 sites	7 sites (including 1 non-pathogenic site)	12 sites
Instrument	Biochemical instrument	Fluorescence quantitative PCR instrument	Requires dedicated equipment	Common hybrids

Product advantages

Comprehensive coverage: The genetic loci are scientific and comprehensive, and 12 mutation sites are detected at the same time, and the coverage rate is over 95% after verification by big data;
Leading technology: own independent invention patents, cooperate with many domestic clinical units, the product has been fully optimized, the hybridization signal is strong, and the non-specific signal is weak;
Accurate:verified by more than 30,000 clinical epidemiological samples, the coincidence rate with sequencing is 100%, and all sites are set with normal controls for heterozygous / homozygous discrimination to reduce missed detections;
Simple and convenient: interpret the result directly with the naked eye, accurate and easy to judge;
Genetic testing:The results are reliable for life, and can accurately detect neonatal hemolysis;
High cost performance: no need for expensive special equipment, facing the public.

Genetic law