Genetic health in the prenatal period - triSure Carrier - Gene Solutions

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?

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

Genotype

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

Clinical manifestations

Asymptomatic
or mild symptoms

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

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.

A screening test for 2.800 pathogenic mutations associated with 09 most common hereditary 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?

TESTING PROCESS

Not pregnant—Spousal DNA

Receive results in seven days with a consultation

Collect a DNA sample (at home) using a US-standard kit

Send samples for DNA analysis to Gene Solutions

Receive results in seven days with a consultation

Pregnant Women—Maternal DNA

Pre-test counselling

Collect blood from the mother or mucosal membrane smear

Sequencing

Receive results in seven days with a consultation

Testing Package

HBA1, HBA2, HBB

From

A screening test for 495 deletion & pathogenic mutations associated with Alpha & Beta Thalassemia. Support one free test on mutated gene for husband/wife/child when the test is positive.

HBA1, HBA2, HBB, GALT, PAH, G6PD, SLC25A13, SRD5A2, GAA, ATP7B

From

A screening test for 2.800 pathogenic mutations associated with 09 most common hereditary diseases. Support one free test on mutated gene for husband/wife/child when the test is positive.

Video

Find out more about triSure NIPT

Click to see triSure Carrier’s brochure

Still have questions?
Connect with a geneticist

No one has to travel on the path to being healthy alone. Before and after a genetic test, the physician and geneticist are always available to provide accurate, responsible results; collaborating with clinical physicians to determine the optimal monitoring and intervention measures.