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1. Veterinary Diagnostic Kits | 2. Clinical Diagnostic Kits | 3. Food Molecular Testing Kits

2. Clinical Diagnostic Kits
2.1 Chromosomal Aneuploidy detection | 2.2 Dengue Fever detection | 2.3 Enteroviruses (EV) detection | 2.4 HBV detection | 2.5 Human Influenza detection | 2.6 Pharmacogenetic | 2.7 SARS detection | 2.8 Other detections


2.1 Chromosomal Aneuploidy detection

clinical
Aneuploidy, the occurrence of abnormal numbers of chromosomes within a cell, including loss of chromosomes (e.g. loss of X chromosome in XO females with Turner's syndrome) or the presence of additional chromosome material as in Down syndrome (where a complete additional copy of chromosome 21 is found). The presence of three copies of chromosomes, instead of the normal complement of two, is called trisomy. The addition or loss of chromosomal material is often very deleterious to life. The gene density on chromosomes X, Y, 13, 18 and 21 is the lowest of all the chromosomes, helping to explain why gross numerical abnormalities on these chromosomes can be tolerated by the growing fetus. Aneuploidy of the other chromosomes almost certainly occurs and is probably incompatible with life, resulting in spontaneous abortion of the developing fetus. Studies have described that a majority of spontaneous abortions have such gross genetic defects.

Trisomy is a common cause of birth defects and mental disabilities. Trisomy 21 occurs at a frequency of about 1:700 live births (see Table). The frequency of the other defects (trisomy 13 or 18) is considerably lower. Other numerical chromosome disorders occur at a low frequency, e.g. XXYY, XXXY, XXXX, etc. These are also amenable to investigation by STR-PCR analysis
 
Syndrome Frequency Defect Symptoms

Down

1 in 700

Extra chromosome 21

Mental retardation, physical deformity, cardiovascular problems, premature senility and death

Edward

1 in 5,000

Extra chromosome 18

Gross deformity, 90% of affected children die within 12 months of birth

Patau

1 in 8,000

Extra chromosome 13

Gross deformity, most affected children die within one week of life


Product Description
The chromosomal aneuploidy detection kit is based on Quantitative fluorescent polymerase chain reactions (QF-PCR), which allows rapid prenatal detection of gender and chromosomal aneuploidies. QF-PCR is robust and reliable, and offers shorter turnaround time with superior precision in fragment sizing. The test can be completed within one working day. The selected STR markers in the kit can confidently identify aneuploidy with tri-allelic trisomies. The kit provides all necessary reagents to carry out 50 reactions.
 
Product List for Chromosomal Aneuploidy detection
Catalogue No. Product
Kit Manual

C02-01-1122

Chromosomal aneuploidy QF-PCR detection kit (21, 18, 13, sex) (50 reactions)

PDF

C02-01-1123

Extra primer set for Chromosomal aneuploidy (21, 18, 13) (30 reactions)

PDF

 

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