2.200
children with Thalassemia/year(*)
15 - 30.000
children with G6PD deficiency/year(*)
80%
of infants born with genetic abnormalities have healthy parents(**)
(*) Vietnam population statistics in 2017
(**) Blythe SA, et al. Clin Biochem. 1984; 17(5): 277-283
What is a recessive genetic disorder?
Clinical manifestations
Moderate to severe symptoms
Genotype
Asymptomatic or mild symptoms
Genotype
Carries two copies of the mutated gene
Clinical manifestations
Carries one copy of the mutated gene
What if both parents are carriers?
- Children with an autosomal recessive disorder manifest symptoms when they inherit both copies of a mutated gene from their parents.
- If parents are carriers of a recessive genetic disorder, each child may have a 25% chance of having this recessive genetic disorder.
Autosomal recessive inheritance pattern
Even if the mother or father does not manifest symptoms, their children are still at risk of having a recessive genetic disorder.
Benefits of triSure Carrier
Early screening of recessive genetic disorders in parents or pregnant women
Assess the possibility of disease inheritance to children
Free testing for mother/father and children
Provide women with options to give birth safely
Equip doctors with information regarding early intervention after birth

Nine most common monogenic recessive diseases
Alpha thalassemia
Frequency of Vietnamese carriers: 1/22
Beta thalassemia
Frequency of Vietnamese carriers: 1/32
Milk allergy (Galactose metabolism disorder)
Frequency of Vietnamese carriers: 1/416
G6PD Deficiency
Frequency of Vietnamese carriers: 1/36
Protein intolerance (Phenylketonuria)
Frequency of Vietnamese carriers: 1/60
Cholestatic jaundice due to citrin deficiency
Frequency of Vietnamese carriers: 1/32
Male sexual differentiation disorder due to deficiency of 5-alpha reductase enzyme
Frequency of Vietnamese carriers: 1/45
Pompe disease (glycogen-storage disease type 2)
Frequency of Vietnamese carriers: 1/52
Wilson's disease (disorder of copper metabolism)
Frequency of Vietnamese carriers: 1/110
* Exclusive research data on 26,000 Vietnamese people and an international publication titled “Frequency of latent disease in Vietnamese people” based on statistics from 985 G4500 samples published in the Human Mutation journal IF 4.8
Who should take the triSure Carrier test?

Prenatal screening for pregnant women

Parents are preparing for IVF (a screening gene test)

Those planning to marry should have premarital latent disease screening to determine the best possible pregnancy plan
Testing process
Not pregnant—Spousal DNA
Pre-test counselling
Taking the mother's blood and separate extracellular DNA
Sequencing of cell-free DNA
Returning results and post-test counselling
Pregnant Women—Maternal DNA
Pre-test counselling
Collect a DNA sample (at home) using a US-standard kit
Send samples for DNA analysis to Gene Solutions
Returning results and post-test counselling
Our spotlight tests
Down - Edwards - Patau | |||||
Turner syndrome (XO) | |||||
Triple X syndrome (XXX) | |||||
Other numerical chromosome | |||||
09 Hereditary Recessive disease | |||||
25 dominant single-gene | |||||
Applies to triSure Procare, triSure & triSure9.5
Screening test for 09 recessive genetic disorders
- Alpha thalassemia
- Protein intolerance (PhenvIketonuria)
- Beta thalassemia
- Milk allergy (Galactosemia)
- G6PD deficiency
- Neonantal cholestasis jaundice due to citrin deficienc
- Disorder of sex development in males due to 5 alpha-reductase deficiency
- Pompe disease (type II glycogen storage disorder)
- Wilson's disease (disorder of conner metabolism)
