Being a carrier of a genetic disease means that person only has mutation in one of the copies of a particular gene while the patient carries two copies, about 60% of Hong Kong population are carriers of recessive mutated genes. According to a study of Mendelian diseases, the average genomic carrier burden for severe recessive mutations was 2.82. If both parents have the same recessive gene mutation, they have a 75% chance to pass on the mutant recessive gene to their offspring, while there is a 25% chance that children will inherit the recessive genes from both parents at the same time and suffering from severe illness. Many Mendelian diseases can cause death, malformation,mental impairment, or organ failure.
There is a 50% chance that children have inherited a recessive disease-causing gene from the parent only. They become the carriers like their parents and have the opportunity to continue to pass the gene to their next generation. If the risk of these diseases for the next generation can be detected as early as possible, we can help couples who plan to have children and pregnant women in the early stages of pregnancy for better preparation in advance.
Disease
Carrier Rate
甲型/乙型地中海貧血
Alpha/Beta thalassemia#
1/12
蠶豆症
G6PD deficiency #
1/12
遺傳性失聰
Hereditary hearing loss#
1/24
脊髓性肌肉萎縮
Spinal Muscular Atrophy (SMA)#
1/50
先天性腎上線皮質增生症
Congenital adrenal hyperplasia #
1/60
多囊腎病
Polycystic kidney disease
1/70
垂體綜合症
Pendred Syndrome #
1/74
龐貝氏症
Pompe disease
1/100
高雪氏症
Gaucher ‘s Disease (GBA)
1/120
克拉伯病
Krabbe disease #
1/150
黏多醣症I型
Mucopolysaccharidsis Type I
1/340
脆性X 綜合症
Fragile X Syndrome (FMR1)
M: 1/1000
F: 1/350
# 香港最常見遺傳病Most common hereditary diseases in Hong Kong
HeredScreen Carrier Screening Panel
Detect 420+ recessive genetic disorders
Adopts accurate and reliable latest gene sequencing technology Next Generation Sequencing (NGS)
HeredScreen detects 420+ recessive genetic disorders with positive rate up to 50%
All targeted regions are sequenced with ≥50X depth or supplemented with additional analysis.
Accuracy up to 99.9%
Covers most common recessive hereditary diseases
Medical reports including details of the disease
Professional genetic counseling, helping parents with family planning
Type of sample collection: Oral DNA or Blood
Report: 20-30 working days
HeredScreen
Service registration and blood samples collection at Kinetics Integrated Medical & Health Centre
The blood sample would be delivered to Cordlife (Hong Kong) Limited for testing and processing.
When the blood samples processing is completed, a HeredScreen report will be issued and elaborated by Cordlife (Hong Kong) Limited Laboratory Director. The report would be mailed by Cordlife (Hong Kong) Limited.
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Kinetics Integrated Medical & Health Centre (Jordan)
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Kinetics Integrated Medical & Health Centre (By appointment)
