What is Molecular Screening Services (MSS) for FH1536™ and what does the test tells about your patient?

MSS for FH1536™ is a predisposition screening and diagnostic test for Familial Hypercholesterolemia. It detects the polymorphisms in a number of genes involved directly or indirectly in lipid metabolism. 1536 polymorphisms have been selected from more than 70 genes with emphasis given to the 3 main genes, namely: LDLR gene, ApoB (ApolipoproteinB) gene and PCSK9 (Proprotein convertase subtisilin/kexin type 9) gene. In short, MSS for FH1536™  is a:
  • Screening test which establish your subject’s lifetime risk  of developing Hypercholesterolemia
  • Diagnostic test which detects whether your patient carries the disease causing alleles for FH, hence confirms your patient is a definite FH or not.

MSS for FH uses a two-pronged approach, molecular and clinical examinations. Molecular examination involves the scanning of your patient DNA, in search of related polymorphisms inherited from one’s parents. Clinical examination associates one’s lifestyle choices, family history and medical history to FH risk. The combined clinico-molecular analysis thus provides a more thorough and comprehensive risk assessment than each of the two examinations alone.

What is the procedure involved?


A small sample of blood (about 3 to 8.5ml) will be collected and clinical information will be recorded. The procedure is non-invasive. DNA will be extracted from the blood sample and subjected to High Density Microarray Technology based SNP genotyping. A blood test is independently done to evaluate the Lipid profile. Clinical information will be examined by our panel of specialists.

Who should take this test?

•    Healthy individuals (in order to know their predisposition risk)
•    Hypercholesterolemia patients (clinically diagnosed)
•    Relatives and children of FH patients

Any individual who has suffered from Familial Hypercholesterolemia should consider ordering the test for their offspring and blood relatives for comparative study, in order to ascertain if the same FH-causing genetic markers have been passed on or shared by their loved ones. Many people do not seek for medical intervention until they are clinically symptomatic. FH1536 can reveals the underlying molecular condition of an assymptomatic individuals, therefore allows for early intervention.  

What are the benefits of undergoing Molecular Screening Services for FH?

MSS FH1536™ allows molecular diagnosis of FH, at any age and before overt clinical symptoms develop. It helps identify children with the disease. If a parent has FH there is a strong likelihood, 50% or more, that their children have it, and the children can be tested. The earlier the diagnosis the better the outcome since patients with FH is constantly accumulating cholesterol from birth.

Apart from that, patients informed of the genetic basis of the disease and the corresponding functional consequences adhere to their treatment protocol more strongly. Early and sustained treatment have shown FH patients to respond very well and have “normal” build up in arterial walls.

Is your patient required to take the same test again in the future?

The molecular test result represents one’s genetic profile at that time of testing. The probability of your subject’s or patients’s DNA getting mutations at the exact locations of risk-associated SNPs is low within a short span of time. However, we upgrade our panel of SNPs regularly, in order to keep up to date with the latest scientific discovery on Familial Hypercholesterolemia genotype association. Every upgrade is a step forward for the fine-tuning of the test and towards fulfilling the goal of personalized medicine. You will be informed of the upgrades when available.    


What are the limitations of the test?

The test panel captures the genetic variations which are documented based on the current research status. As scientific research and development progress, more genetic variations will be identified. Our research scientists will continuously upgrade the panel as more discoveries are made.
Has the Test Been Validated?
The validation studies involved the collaboration between INFOVALLEY® and University Malaya Medical Centre whereby 300 patients were recruited from Cardiology, Endocrinology, Paediatric Department and Wellness Clinic of the hospital. The association of the 1536 SNPs with FH has been independently validated at INFOVALLEY® Molecular Research Laboratory. The classification was established according to the comparative study of the genomic profile of FH patients and healthy individuals. Illumina microarray platform (on custom design BeadChip) was employed in the research. Each polymorphism and mutation will be tested for Hardy-Weinberg equilibrium, whereby the significance of the polymorphisms and mutations was tested by Leave-one-out (LOO) cross-validation. The k-CGS and k-ACS methods were performed for the identification of risk-associated and protective genetic markers. The study is focus on predictive power of not individual but a collection of genetic markers.
Is there any publication / patent on the validation study?
    Livy Alex, Jagdish Kaur Chahil, Say Hean Lye, Pramod Bagali & Lian Wee Ler. 2012. Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population. Journal of Human Genetics aop, (2012) | doi:10.1038/jhg.2012.34.

  • Livy Alex, Say Hean Lye, 2011, Familial Hypercholesterolemia in Asia: A Review, OMICS Res 1(1): 22-31
  • Patent No: PI 2011004478 Methods and Compositions for Diagnosing Familial Hypercholesterolemia
More validation studies will be published in the internationally recognized scientific journals soon. INFOVALLEY® holds the IP right towards INFOHaem™ FH1536 (Patent#: PI2011004478). Patent/copyright infringement and trademark violation is an offense according to The Malaysia Patent Act 1983 and the Patent Regulations 1986.
FH1536 Paper's abstracts from International conference: 
Differences in allele frequencies of autosomal dominant hypercholesterolemia SNPs in the Malaysian population.pdf415.84 KB
Familial Hypercholesterolemia in Asia: A Review.pdf207.22 KB
BioBoston_FH1536.pdf615.28 KB
World Congress of Biotechnology_FH1536.pdf377.57 KB
PECIPTA_FH1536.pdf347.72 KB