What is Reproductive Carrier Screening?
Our targeted 5-gene carrier screening identifies individuals who carry genetic variants for common inherited disorders prevalent in the Malaysian population. Carriers typically do not show symptoms but can pass these variants to their children. When both partners are carriers of the same condition, there is a 25% chance of having an affected child.
Why Screen?
Understanding your carrier status before pregnancy allows for informed family planning decisions, including preconception genetic counseling, PGT, prenatal diagnosis, or early intervention planning. These 5 conditions were selected based on their carrier frequency and clinical significance in our population.
The 5 Genes Screened
Alpha Thalassemia
HBA1 / HBA2 genes
Detects point mutations and large deletions in alpha globin genes. Common cause of anemia and hydrops fetalis in Southeast Asia.
Inheritance: Autosomal recessive
Beta Thalassemia
HBB gene
Identifies point mutations and deletions in the beta globin gene. Severe forms require lifelong transfusions.
Inheritance: Autosomal recessive
Fragile X Syndrome
FMR1 gene
Capillary electrophoresis for CGG repeat expansion detection. Most common inherited cause of intellectual disability.
Inheritance: X-linked dominant
Spinal Muscular Atrophy
SMN1 gene
Detects homozygous deletion of SMN1 exon 7, responsible for >95% of SMA cases. Progressive neuromuscular disorder.
Inheritance: Autosomal recessive
G6PD Deficiency
G6PD gene
Identifies common mutations causing glucose-6-phosphate dehydrogenase deficiency, leading to drug-induced hemolytic anemia.
Inheritance: X-linked recessive
Testing Methodologies
Each gene is analyzed using the most appropriate technology for optimal detection
NGS
Thalassemia, G6PD
MLPA
Thalassemia deletions, SMA
Capillary Electrophoresis
Fragile X (FMR1)
Combined Approach
Comprehensive results