Increased knowledge of genomics over the past two decades has made it apparent that many diseases are associated with the genetic variations. Genetic diseases are usually grouped into single-gene disorders (i.e. haemoglobinopathies, cystic fibrosis and haemophilia) and chromosomal disorders (i.e. Down syndrome, among others). These conditions are described as genetic diseases because a defect in one or more genes or chromosomes leads to a pathological condition. Genetic diseases can vary in severity, from being fatal before birth to requiring continuous management; their onset covers all life stages from infancy to old age. Those presenting at birth are particularly burdensome, however, as they may cause early death or life-long chronic morbidity.

Globally, at least 7.6 million children are born annually with severe genetic or congenital malformations; 90% of these infants are born in mid- and low-income countries. In the developed world, genetic and congenital disorders are the second most common cause of infant and childhood death, occurring with a birth prevalence of 25-60 per 1000, with the higher figure being derived from fuller sets of data*.     All people are at risk of diseases due to genetic mutations. The higher prevalence of genetic diseases in particular communities may, however, be due to some social or cultural factors. Such factors include a tradition of consanguineous marriage, which results in a higher rate of autosomal recessive conditions including congenital malformations, stillbirths, or mental retardation. Further, maternal age greater than 35 is associated with higher frequencies of chromosomal abnormalities in the offspring.   Through multiple advanced molecular and cellular methods, we can offer genetic consultation and prenatal genetic diagnosis professionally and privately. Therefore, the genetic risk in reproduction or other family members can be assessed. We hope to help all families have healthy babies with our efforts.

Cytogenetics   Genetic Diseases   Oncology   Infectious Diseases   Human Identification – DNA Testing   Maternal Blood Screening   Miscarriage genetic investigation profile (Female)   Fertility genetic investigation profile (Male)

*All data from WHO reports