Making cell-free DNA testing accessible to all healthcare providers
Understanding your genes

Understanding your genes

A healthy start for your children

A screening test for nine recessive genetic disorders among parents, helping assess the possibility of disease inheritance to their children. Can be performed before or during pregnancy

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Understanding your genes
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Moderate to severe symptoms

5 -

0%

World population are carriers of Thalassemia. 56,000 children are born with Thalassemia major/year (*)

Moderate to severe symptoms
0.0%

World population are carriers of G6PDd. 2,9% are G6PD deficient (**)

Moderate to severe symptoms
0%

of infants born with genetic abnormalities have healthy parents (***)

(*) Global Thalassemia Review 2023 - THALASSEMIA INTERNATIONAL FEDERATION

(**) WHO/UCN/GMP/MPAG/2022.01

(***) Blythe SA, et al. Clin Biochem. 1984; 17(5): 277-283

What is a recessive genetic disorder?

  • Patients are carriers of both copies of the genetic mutation or male carriers of the mutated gene on the sex chromosome. These people have typical clinical manifestations.

Clinical manifestations

Moderate to severe symptoms

Moderate to severe symptoms

Genotype

Carries two copies of the mutated gene

Carries two copies of the mutated gene

  • Carriers are those who carry one copy of the mutated gene and are typically asymptomatic or have mild symptoms.
  • A recessive genetic disorder is a disease caused by genetic mutation. Both parents must be carriers of the mutated gene to pass it on to their children.

Genotype

Carries one copy of the mutated gene

Carries one copy of the mutated gene

Clinical manifestations

Asymptomatic or mild symptoms

Asymptomatic or mild symptoms

What if both parents are carriers?

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

What if both parents are carriers?

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

  • Determine whether mother/father is a carrier. Nine investigated diseases have a high prevalence but are easily overlooked by conventional screening methods.

Assess the possibility of disease inheritance to children

  • Children with an autosomal recessive disorder manifest symptoms when they inherit both copies of the mutated gene from their parents.

Free testing for mother/father and children

  • Support one free test for mutated gene in father/mother/child if the test participant has a positive result (in case of a positive result for G6PD deficiency, we don't perform the test for the father, only for the newborn).

Provide women with options to give birth safely

  • Assist parents in making proactive choices regarding assisted reproductive techniques in order to eradicate disease-causing genes for the next generation.
  • Artificial insemination (IVF) or early prenatal diagnosis (amniocentesis).

Equip doctors with information regarding early intervention after birth

  • Early diagnosis of common recessive genetic diseases of newborns for timely and effective treatment, reducing the risk of complications, and helping your children lead a normal life.

Benefits of triSure Carrier

Nine most common monogenic recessive diseases

Alpha thalassemia

Alpha thalassemia

Frequency of Vietnamese carriers: 1/22
Beta thalassemia

Beta thalassemia

Frequency of Vietnamese carriers: 1/32
Milk allergy (Galactose metabolism disorder)

Milk allergy (Galactose metabolism disorder)

Frequency of Vietnamese carriers: 1/416
G6PD Deficiency

G6PD Deficiency

Frequency of Vietnamese carriers: 1/36
Protein intolerance (Phenylketonuria)

Protein intolerance (Phenylketonuria)

Frequency of Vietnamese carriers: 1/60
Cholestatic jaundice due to citrin deficiency

Cholestatic jaundice due to citrin deficiency

Frequency of Vietnamese carriers: 1/32
Male sexual differentiation disorder due to deficiency of 5-alpha reductase enzyme

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)

Pompe disease (glycogen-storage disease type 2)

Frequency of Vietnamese carriers: 1/52
Wilson's disease (disorder of copper metabolism)

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
Find out more about nine common monogenic recessive diseases

Who should take the triSure Carrier test?

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Prenatal screening for pregnant women

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Parents are preparing for IVF (a screening gene test)

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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
Pre-test counselling
Collect a DNA sample (at home) using a US-standard kit
Collect a DNA sample (at home) using a US-standard kit
Send samples for DNA analysis to Gene Solutions
Send samples for DNA analysis to Gene Solutions
Results returned after 7 days and consultation
Results returned after 7 days and consultation

Pregnant Women—Maternal DNA

Pre-test counselling
Pre-test counselling
Blood collection and extracellular DNA separation
Blood collection and extracellular DNA separation
Sequencing of cell-free DNA
Sequencing of cell-free DNA
Results returned after 7 days and consultation
Results returned after 7 days and consultation
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