Our ​NewbornDiscovery​ screening looks for more than ​100 diseases that can be diagnosed, treated or managed with current medicine so immediate response is possible. Without rapid diagnosis and appropriate treatment, these diseases can cause mental retardation, physical disabilities, and even death.

We test up to ​256 genes​ for diseases that can lead to serious long-term complications, using the latest in next generation sequencing (NGS) technology.

Many high-income countries such as USA, South Korea, Italy, Denmark, Canada, Australia, Qatar, and Taiwan have expanded their neonatal screening programme in order to cover more IEM, including phenylketonuria (PKU), cystic fibrosis, sickle cell disease, critical congenital heart disease, hearing loss, and others. In Thailand, a neonatal screening programme was introduced in 1996 to screen only for PKU. The incidence of PKU in the Thai population is 2.22 per 100,000 live births.

Previous method of testing was based on Tandem Mass Spectrometry (MS/MS), but we employ a newer and more accurate method using ​NGS sequencing​. Testing is performed on a blood sample obtained from a heel prick when the baby is ​2 or 3 days old​.

NewbornDiscovery​ screening mainly tests for metabolic, endocrine and haemoglobin disorders* and includes these diseases:

1. Phenylketonuria (PKU)
2. Congenital hypothyroidism
3. Congenital adrenal hyperplasia
4. Galactosemia
5. Ornithine translocase deficiency
6. Cystic Fibrosis
7. Hereditary fructose intolerance
8. Pompe Disease
9. Sickle cell disease
10. Hearingloss
11. Severe combined immunodeficiency
12. Alpha-thalassemia-X-linkedintellectualdisabilitysyndrome
13. Maplesyrupurinedisease
14. Sicklecelldisease

* Types of disorders tested:

1. Metabolic Disorders – result in metabolism problems due to defective genes that results in an enzyme deficiency.
   a. Fatty Acid/Organic acid disorders
   b. Amino acid disorders
   c. Lysosomal storage disease – a group of about 50 rare inherited metabolic disorders that
   result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that
   digest large molecules and pass the fragments on to other parts of the cell for recycling.
   d. Glycogen storage diseases – is a metabolic disorder caused by enzyme deficiencies
   affecting either glycogen synthesis, glycogen breakdown or glycolysis (glucose breakdown), typically within muscles and/or liver cells. GSD has two classes of cause: genetic and acquired.
2. Endocrine disorders – These are hormone diseases that occur when your body does not respond to hormones the way it is supposed to.
3. Haemoglobin disorders – Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. It is typically inherited from a person’s parents.