Genetics & Genomics

Genetics is the study of genes and Genomics is the study of the genome (all genes). Genes are segments of DNA that exist within chromosomes in every cell of our body. Genes can act like on and off switches and instruct cells when to grow, divide, work and die. When genes function correctly, they help protect us against cancer and other genetic disorders.

Gene mutations (damage to DNA) occur in our cells all the time when exposed to something like radiation, chemicals, etc. Our cells can usually fix these gene mutations before entry into cell cycle i.e cell division. But sometimes these changes can’t be fixed by the cells and are passed on to new cells. The cells carrying gene mutation doesn’t work properly and can become cancerous over a period of time and the risk of cancer is higher as we get older.

Cancer is a genetic disease, all cancers are caused by a change in genes or damage to genes. Common cancers are demarcated into hereditary (familial) or sporadic/acquired (non-hereditary) types. Cancers that are caused by gene mutations/genetic changes that are inherited from our parents are called hereditary or inherited cancers. People with inherited gene mutations have a higher risk for cancer and account for 5-10% of all cancers. The sporadic or acquired cancers are caused by genetic changes occurred during life time as we get older or when we are exposed to something. Sporadic cancers are non-inherited and account for 75-80%.

Genetic testing identifies variations (mutations) in genes that can cause or increase the risk of cancer in lifetime. Genetic testing also helps in detection, classification, monitoring, prognosis of cancer and provides information for targeted therapeutic options and surveillance.

Genetic Tests for

1. Hematological Cancers
2. Solid Tumor Cancers
3. Preventive Oncology

NGS :

Next-generation sequencing (NGS) is a high-throughput methodology that enables rapid sequencing of the base pairs in DNA or RNA samples to study genomic variation associated with cancer or other diseases. NGS allows massive parallel sequencing of hundreds and thousands of genes or whole genome in a short period of time. Supporting a broad range of applications, including gene expression profiling, detection of epigenetic changes and molecular analysis.

More recently, NGS has been adopted in Clinical Oncology to identify biomarkers for early diagnosis, prognosis and therapeutic decision. In addition, NGS is used to identify novel and rare cancer mutations, detect familial cancer mutation carriers and provide molecular rationale for appropriate targeted and personalized precision treatment of cancer.

NGS services overview in Vijayawada:

1. BRCA gene panel
2. Leukemia gene panel
3. Lymphoma gene panel
4. Focus panel
5. Liquid Biopsy - Lung cfTNA panel
6. Liquid Biopsy - Pan Cancer cfTNA panel
7. Hereditary colon cancer panel
8. Hereditary cancer panel
9. Oncomine Comprehensive Assay plus gene panel (500 plus genes)

RTPCR :

Real-time PCR (polymerase chain reaction) offers sensitivity, specificity, and wide dynamic range for detecting target nucleic acids, making it a useful and powerful technology in the field of clinical oncology. In the recent years, the implication of real time PCR in the field of oncology has increased substantially and has become the standard method for disease detection as well as quantification.

Real-time PCR offers detection of minimal residual disease (MRD), single nucleotide polymorphisms (SNPs) and chromosomal translocations.

Applications:

Gene expression analysis

Gene expression is the most common application for real-time PCR due to its efficiency at detecting and quantifying target genes, even at very low expression levels.

Genetic variation analysis

Genetic variation refers to the differences in the DNA sequence encoded within our genomesi.epathological changes underlying disease.

Mutation detection

Thechanges in the DNA sequence called as mutations, they can be very small changes, affecting only a few nucleotides or they can be very large, leading to major changes in the structure of chromosomes.Both small and large mutations can affect the behaviour of cells. Combinations of mutations in important genes can lead to the development of cancer.

Our RT-PCR services overview:

For Myeloproliferative Disorders and Blood cancers:

1. BCR-ABL1 Quantification Assay
2. BCR-ABL1 Qualitative Assay
3. PML - RARA Qualitative Assay
4. MPN panel Assay
5. JAK2 (V617F) Mutation Assay
6. MPL & CALR mutation Assay
7. HPV PCR assay

For Cervical Cancer:

HPV DNA Assay

(15 high risk types: 16, 18 , 31, 33, 35, 39, 45, 51, 52, 56, 58, 59, 66, 67 & 68)