Monogenic Disorder Testing | Heritable Disease Genetic Testing

What Are Monogenic Disorders?

Monogenic disorders, also known as single-gene disorders, are caused by mutations in a single gene. These conditions follow predictable inheritance patterns (autosomal dominant, autosomal recessive, or X-linked) and can significantly impact health and quality of life.

Over 10,000 human diseases are known to be monogenic, affecting millions of people worldwide. Many of these conditions are rare individually but collectively represent a significant healthcare burden.

Genetic testing for monogenic disorders enables:

Carrier screening for recessive conditions
Diagnostic confirmation in symptomatic individuals
Prenatal and preimplantation genetic testing
Risk assessment for family members

Approximately 1 in 10 people have a monogenic disorder or will develop one during their lifetime.

Common Monogenic Disorders

We offer comprehensive testing for a wide range of inherited conditions

Thalassaemia Syndromes

Inherited blood disorder affecting haemoglobin production. Common in Malaysian population. Carrier screening recommended for at-risk couples.

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Spinal Muscular Atrophy (SMA)

Neuromuscular disorder causing progressive muscle weakness. Carrier screening recommended for all couples planning pregnancy.

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G6PD Deficiency

X-linked enzymatic disorder causing hemolytic anemia when exposed to certain medications or foods. Common in Malaysian males.

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Familial hypercholesterolemia

If LDL is very high or there is a family history of early heart disease, ask about genetic testing and cascade screening-a common but underdiagnosed genetic condition.

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Duchenne muscular dystrophy

Progressive X‑linked disorder causing loss of dystrophin and progressive muscle weakness, primarily affecting boys in early childhood.

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Fragile X Syndrome

Most common inherited cause of intellectual disability. Caused by CGG trinucleotide repeat expansion in FMR1 gene.

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Our Testing Methodologies

State-of-the-art technologies for accurate and reliable results

Next-Generation Sequencing

Comprehensive analysis of multiple genes simultaneously with high sensitivity and specificity.

Sanger Sequencing

Gold standard for confirmation of specific variants and familial mutation testing.

MLPA

Detection of large deletions and duplications not identified by sequencing.

Fragment Analysis

Specialized testing for trinucleotide repeat disorders like Fragile X and Huntington's.

qPCR

Rapid targeted testing for common mutations in conditions like G6PD and Factor V Leiden.

Karyotyping

Chromosomal analysis for large structural abnormalities and aneuploidies.

Featured Monogenic Tests

Commonly ordered tests for heritable conditions

FGFR3M

Achondroplasia (FGFR3) - 2 mutations c.1138G>A/C

10 Days The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA, dried blood spots, and saliva are also accepted for this test. Saliva samples must be submitted in an approved saliva kit.

Genes: 1 genes analyzed

Details

APOEGT

Apolipoproteins E (APOE) ε (ε4, ε3 and ε2) Genotyping

10 Days Blood

Genes: 1 genes analyzed

Details

BTHAPB

Beta - Thalassaemia /Hbpathies- NGS reflexed to MLPA (Blood)

10 Days Blood

Genes: 1 genes analyzed

Details

PNL046

Cerebral Small Vessel Disease, Familial

3 ml peripheral blood in EDTA (purple/pink top) tube

Details

SangCGT

Customised Sequencing by Sanger Sequencing

Details

CFTR9T

Cystic Fibrosis with CFTR intron 9 Poly T

Details

DMDBMD

Duchenne/Becker Muscular Dystrophy Deletion/Duplication Test

10 Days The preferred sample type is 3-5 ml of peripheral blood collected in an EDTA (purple top) tube. Extracted DNA also accepted for this test.

Genes: 1 genes analyzed

Details

FIIPTNT

Factor II (Prothrombin) (G20210A)

Peripheral blood in EDTA

Details

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Who Should Consider Testing?

Guidelines for monogenic disorder genetic testing

Family Planning

Couples planning pregnancy, especially those with family history of genetic disorders or from high-risk populations.

Symptomatic Individuals

Patients with clinical features suggestive of an inherited disorder requiring diagnostic confirmation.

Family History

Individuals with family history of inherited disorders, even if asymptomatic, to determine carrier status.

High-Risk Populations

Ethnic groups with increased prevalence of specific conditions (e.g., Thalassemia in Southeast Asian populations).

Prenatal Testing

Pregnant women with abnormal ultrasound findings or known family history of genetic disorders.

Preimplantation Genetic Testing

Couples undergoing IVF who wish to screen embryos for known familial mutations.

Frequently Asked Questions

Common questions about monogenic disorder testing

What is the difference between carrier screening and diagnostic testing?

Carrier screening identifies individuals who carry one copy of a recessive gene mutation but do not show symptoms. Diagnostic testing confirms or rules out a specific disorder in symptomatic individuals or those with known family history.

How long does it take to get results?

Turnaround time varies by test complexity, ranging from 7-21 days. Targeted mutation analysis may be faster (7-10 days), while comprehensive gene panel testing typically takes 14-21 days.

Will genetic counseling be provided?

Yes, all patients receive pre- and post-test genetic counseling to discuss implications of results, inheritance patterns, and family planning options.

What sample types are accepted?

Most tests accept whole blood (EDTA tube), saliva, or buccal swabs. Prenatal testing requires amniotic fluid or CVS samples. Contact us for specific requirements.

What is the cost of testing?

Pricing varies based on test complexity. Please login to view pricing or contact our client services team for detailed quotes.

Can I be tested for multiple conditions at once?

Yes, we offer comprehensive carrier screening panels that test for hundreds of recessive conditions simultaneously, providing cost-effective and efficient screening.

Ready to Order Monogenic Disorder Testing?

Our genetic counselors and client services team are ready to assist with test selection, sample collection, and result interpretation.

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