Category Archives: EZ 45 – Medical

Next Generation DNA Sequencing Technology in Malaysia

Ion-S5XL-Front-10in.jpgAn Interview with Dr. Mohamed Saleem (M.Sc Haematology, PhD Genetics), Genetics Laboratory Manager, GenomixLAB™

Can you tell us more about GenomixLAB™ and NIPT?

GenomixLAB™ focuses on chromosome evaluations and gene sequencing. Our laboratory is equipped with a complete bench of the latest state-of-the-art Next Generation Sequencing (NGS) machines including ION S5 XL Semiconductor Sequencer, Personal Genome Machine (PGMTM) and Ion-Chef from Thermo Fischer Scientific. In fact, we are the first company in this region to deploy ION S5 XL machine.

Non-invasive prenatal testing (NIPT) marketed as Non-invasive Chromosome Evaluation (NiCE™) is a chromosomal test offered by GenomixLAB™ to study

the presence of an abnormal number of chromosomes (aneuploidy) in the foetus of a pregnant mother. We offer NiCE™ testing in three formats. That is you can choose to test only the three most common chromosomal abnormalities including trisomy chromosome 21 (Down’s syndrome), trisomy 13 (Patau’s syndrome), trisomy 18 (Edward’s syndrome) and sex chromosome aberrations; or one can choose to test for aneuploidy in all the 23 pair of chromosomes. These two modes of testing can also be complemented with a third option of screening for 8 or 20 microdeletion syndromes in the foetus, including DiGeorge, Prader_Willi and Angelman to name few.   

What type of sample is needed for NiCE™ testing and how long does it take for reports to be available?

We require about 10mL of blood from the expecting mother at 10 weeks gestation collected into special blood collecting tube provided by the GenomixLAB™. Since samples are analysed locally here in Malaysian without the need to sent to overseas for testing, results will be available in not more than 10 calendar days. NiCE™ test is more than 99% accurate.

Apart from NIPT, what else do you all do?

In addition to the NIPT test, we also perform other genetic tests, such as BRCA 1 and 2 genes testing for early onset breast cancers risk assessment, Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) for chromosome and genetic disorder screening on IVF embryos, and many more.

If this is only a screening test and claimed to be more than 99% accurate, why then do one need to do a diagnostic test such as Amniocentesis or CVS in the unlikely situation where the NIPT result turns out to be positive?

Although the NiCE™ test is 99% accurate, all NIPT tests in the market remain screening test for clinical purposes. Therefore, before any intervention is decided on a positive NIPT results, a repeat chromosomal aneuploidy testing on an amniocentesis or CVS (Chorionic Villous Sample) is required to confirm the foetal diagnosis.

Does GenomixLAB™ offer the confirmatory testing on amniocentesis or CVS?

Yes GenomixLAB™ offers this service for our NiCE™ screen positive patients and for other referred patients as well.

You mentioned something about sex chromosomes earlier. Does this mean that you can assist the parents to determine the gender of the baby? Yes we can! NiCE™ test will determine the presence of the Y chromosome. If Y-chromosome was detected, the foetal gender will be regarded as male, whereas its absence denotes the baby is a female. Females carry two X chromosomes and lacks Y chromosome, whereas males carry both X and Y chromosomes.

How do you see this trend in Malaysia?

In Singapore, we were told that 80% of pregnant mothers are opting for NIPT today to avoid any future problems. In certain other countries, it had been included in the antenatal screening panel to carry out such tests as compared to the more conventional triple tests.

In Malaysia, the awareness of NIPT has not reach to a level where people can openly accept it. This is largely due to affordability of the test as well. Just like cord blood stem cell banking when it first started, the awareness is very low and not many people could appreciate the importance of keeping their precious baby’s cord blood stem cells. Today, almost all private hospitals carry out this procedure as it only takes 5 minutes to do this.

Similarly, NIPT is non-invasive and 100% safe for both the mother and her precious baby.  It gives the mother the peace of mind knowing the status of her baby as early as 10 weeks into her pregnancy. It is our yearn to see that this service that we are offering can come down to a level of affordability to all pregnant mothers one day as more and more pregnant mothers decide to choose this screening test. Like most services, as the volume of test goes up, the cost of screening will go down. Right now, many players are sending the samples to laboratories in overseas but we hope that they can trust our service as we do not compromise on the level of quality and standards since we benchmarked our service to those laboratories in Taiwan where they have a reputation of high standards in genetic testing.

TEL : (+6) 03 6157 2299 • FAX : (+6) 03 6157 2223 • EMAIL :
ADDRESS : No. 47-3A, Level 3, Jalan PJU 5/12, Dataran Sunway, Kota Damansara,
47810 Petaling Jaya, Selangor DE, Malaysia

Sodium Fluoride PET-CT Advanced High Definition Bone Imaging

Dr. Sunil Chopra

Radiologist & Nuclear Medical Physician
MBBS (Delhi), M. Rad (UM), F’ship in Nuc Med Imaging (IAEA)

Clinical Indications

  • Detection of skeletal metastases for Initial Staging, Disease extent and assess Response to treatment
  • Stress injuries and fractures
  • Bone viability after surgery or trauma
  • Complications of joint prostheses, bone graft viability, fracture nonunion
  • Osteonecrosis of femoral head and mandible
  • Metabolic bone diseases like Osteoporosis, Renal osteodystrophy, Paget`s disease
  • Osteomyelitis

Bones not only support the body structure, but are also important in producing blood cells and storing minerals. Diseases or conditions which involve the bones such as tumours, degenerative diseases, infections and injuries can therefore affect these functions.

Various imaging techniques can be used for imaging bones, including X-rays, CT scans and MRI. Besides these, nuclear medicine imaging using radioactive isotopes such as Technetium have been used for many years. With the invention of the PET-CT scanner, combining both PET and CT technology in a single scanner, new and more advanced imaging techniques are now available toassess bony involvement in diseases.

Sodium Fluoride PET-CT (NaF PET-CT) is a new imaging service offered at Loh Guan Lye Specialists Centre from July 2016, providing significantly improved quality and definition compared to other nuclear medicine bone imaging techniques.

The most common indication for the NaF PET-CT scan is in various cancers that may involve the bones, not only to detect spread of cancer to the bones, but also to assess the degree of bony involvement as well as to monitor the response to treatment.

Other indications include the detection of stress injuries and fractures as well as assessment of bone viability after surgery and also to detect complications related to bone implants.

Various clinical indications for NaF PET-CT Scan

This scan uses radioactive Fluoride bonded to sodium, which is then injected into the body and is taken up by areas of increased bone activity. Images of the whole body are then obtained on a PETCT scanner after 45-60 minutes, providing a detailed map of normal and abnormal bone activity in various conditions.

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NaF PET-CT images showing tumour involving multiple bones
NaF PET-CT in a patient with rheumatoid arthritis showing active disease at multiple joints.
Marathon runner with bilateral leg and foot pain. NaF PET-CT image shows bilateral stress injuries at the tibiae and feet.

Compared to other bone scanning techniques using radioactive Technetium, NaF PET-CT is more sensitive and specific in detecting bony lesions (tumour involvement of the bones). Not only does NaF PET-CT detect up to 45 % more lesions, it has other advantages over older bone scanning methods as well. The preparation for this scan is less inconvenient for patients, with no specific restrictions related to diet, medications and lifestyle.

The waiting time and scanning time is significantly less, while image quality is significantly better than older bone scanning techniques. Fusion of PET images with CT images allows precise localisation of lesions and better assessment without the extra expense and inconvenience of having to perform another examination to assess bone lesions found on the Technetium scans.

Interpretation of PET-CT images is done by trained specialists working on dedicated workstations to assess the images. Other clinical and investigative findings are taken into account when reporting the scans to obtain as much information as possible in order to provide the best treatment to the patient.

Loh Guan Lye Specialists Centre is proud to be the first centre in the country to provide NaF PET-CT imaging services, consistent with our commitment to providing the best treatment using the latest technology.

Comparison between conventional bone scan using Technetium (left) and NaF PET-CT (right) in two patients with tumour involving the bones showing significantly better image quality of the NaF PETCT scan with more areas of bone involvement seen compared to the Technetium scan.

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