Molecular Genetics

Molecular Genetics

Molecular Genetics Lab provides a wide range of DNA and RNA based tests for inherited genetic diseases, hematologic and solid malignancies and rare genetic disorders.

We are continually expanding our offering tests. The available molecular services Includes but not limited to:

  • Whole genome/exome sequencing
  • Sanger sequencing
  • Quantitative PCR
  • High throughput SNP genotyping
  • Basic molecular techniques
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Whole Exome Sequencing:
A technique known as Next Generation Sequencing (NGS) is used for whole exome sequencing. It enables the simultaneous analysis of a large number of genes, enabling the identification of genetic changes that may explain a hereditary condition. If you have a medical condition that could be brought on by one or more gene changes but it’s unclear which gene the change is in or how many genes are affected, a whole exome test can be very helpful.

How is the Whole exome interpreted?
The most complex part of the clinical exome is the interpretation of results. This is because not all genetic changes (variants) cause genetic conditions. Some variants are normal parts of what makes everyone different. Variants may be inherited from ancestors, or new in an individual (not inherited). Some cause genetic conditions, and for some we don’t understand their significance. A clinical exome test usually identifies hundreds of variants in one individual. A team of experts including doctors, genetic counsellors and laboratory scientists then work together to understand the significance of each variant found and how this might relate to a patient’s condition.

Bioinformatics criteria:
Variants obtained from sequencing were filtered to include only novel/rare (MAF=0.01%), functional (predicted damaged by SIFT/Polyphen), present in the relevant zygosity state in the affected individuals.

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