OTHER DNA TESTS AND RELATED PRODUCTS
PTC Laboratories Thailand works closely with other reputable laboratories and vendors from around the globe to provide our customers with the latest DNA testing products that are of high quality and affordable.
Please email us at firstname.lastname@example.org for more information.
NEWBORN DISCOVERY EXTENDED
FOR NEWBORN BABIES TO DETECT DISORDERS
|Use||DNA test for newborn babies to detect a wide variety of disorders|
|Processing Time||30-40 working days|
|Details||This test 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.|
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:
- Phenylketonuria (PKU)
- Congenital hypothyroidism
- Congenital adrenal hyperplasia
- Ornithine translocase deficiency
- Cystic Fibrosis
- Hereditary fructose intolerance
- Pompe Disease
- Sickle cell disease
- Severe combined immunodeficiency
* Types of disorders tested:
- 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.
- Endocrine disorders – These are hormone diseases that occur when your body does not respond to hormones the way it is supposed to.
- 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.
Type of Specimen:
- Preferred – Dried blood spots, Minimum 4 spots (minimum diameter 1.3 cm / spot)
- Micro EDTA / purple stopper tube (0.5 mL) At least two
- EDTA / purple stopper tube (3 mL) At least one (1.5 mL is acceptable)
- DNA 5-10 ug TE buffer (minimum concentration: 50 ng / uL, A260 / A280 ratio: 1.65-2.0)
- Dried blood spots at room temperature (transported in plastic / vinyl to prevent damage)
- Whole blood and DNA
○ 15-30 ° C room temperature (within 24 hours)
○ 2-8 ° C refrigeration (within 7 days)
○ -30 ° C freezing (over 7 days)
Storage condition: Room temperature
Required documentation: Request for Inspection, Genetic Test Agreement
TAT: 4-6 weeks
Report format: English pdf
Report result type:
- Positive: If a mutation that is likely to be the cause of the disease is found
- Negative: If no genetic mutation likely to be the cause of the disease was found
- Uncertainty: If mutation of a gene is found but it is not possible to interpret what effect it
has due to insufficient current medical and scientific data (provided that clinical information is provided from the referral agency)
PTC Laboratories Thailand only provides testing and does not provide any genetic counselling. The patient must seek the advice of a genetic counsellor to get guidance on reading and interpreting the report.