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Reproductive Genetics and Cancer Solutions at Lifeline Hospital, Adoor

Published in Health Tuesday, 20 November 2018 16:04

 

 

Reproductive Genetics and Cancer Solutions (RGCS),  associated with Lifeline Hospital, Adoor a is one of the premium genetic testing lab in India & first in state to invest in the latest state-of the art “Next Generation Sequencing” technologies to offer an extensive test menu of highly complex genetic testing in the domains of Reproductive Genetics, Cancer Genomics, Pharmacogenomics and wellness genetic testing.

The RGCS   has been launched by Dr. M.K.C. Nair, Vice Chancellor, Kerala University of Health Sciences  at the 3rd International Conference on Genetics, Fetal Medicine and Infertility( Fetolife 2018) organised in Kochi, jointly by Lifeline Hospital, Adoor Obstetrics and Gynaec Society, Kerala Federation of Obstetrics and  Gynaecology and Cochin Obstetrics and Gynaec Society.

 

Dr Mathew Pappachan, Director (RGCS), Dr. David Cram, Genetics Consultant [Australia), Dr Sreelatha Nair, [Genetics),Chief Scientific Director and Mohamed Saleem, [Genetics), Chief Scientific Officer, Dr. Mathew Kunjummen,Dr. Don leigh, Dr. Anusmitha Andrews and Dr. Kripa Rachel Philip explained the facilities available at the RGCS at a press Meet in Kochi.

 

Non Invasive Prenatal Test – DAISY NIPT

During pregnancy, fetal DNA derived from placental cell is released into the maternal blood where it mixes with maternal DNA.

The Daisy Non Invasive Prenatal Test is an advanced technology that uses maternal and fetal DNA from plasma to directly generate millions of sequencing reads and count the proportion of DNA fragments for each of the 24 fetal chromosomes. The analysis is done by comparing the fetal DNA counts from the test sample to a control reference sample, on a chromosome-by-chromosome basis and any unexpected changes in normal counts indicate the presence of a fetal chromosome abnormality. Such abnormalities can be picked up as early as 8 - 10 weeks of pregnancy.

Daisy NIPT leverages the power of Massively Parallel Sequencing, using a signature algorithm to target and more deeply analyze fetal chromosome material. Grounded in scientific research, Daisy NIPT has been rigorously validated using clinical outcome performance on Indian data, and has the lowest failure rate in the field, meaning fewer sample redraws and overall faster results to you and your patients.

Daisy NIPT – Aneuploidy Screening

Daisy NIPT Plus – Aneuploidy Screening + 7 micro deletions 

Daisy NIPT Complete – Aneuploidy Screening + 20 micro deletions 

 

Preimplantation Genetic Testing (PGT)

Most couples are blessed and conceive naturally, but few may require assistance – assisted reproductive technology (ART) – to conceive. Fewer others may be concerned with a serious heritable condition in their family and would want to avoid passing it on to their offspring.

Preimplantation Genetic Testing brings answers

All couples undergoing in-vitro fertilisation (IVF) treatment are at risk of producing aneuploid (abnormal) embryos, making Preimplantation Genetic Testing-Aneuploidy (PGT-A) an important option for most. 

For couples who are at increased risk of passing on a certain inheritable genetic disorder, PGT-Mutation (PGT-M) or PGT-Structural Rearrangement (PGT-SR) is a useful option that can be offered prior to implantation that greatly reduces the risk of having an affected child.

RGCS also offers pre-implantation genetic testing for HLA (PGT-HLA) to help parents conceive a child who is a tissue (HLA) match with their older sibling – who may be suffering from a life-threatening blood disorder and can become saviour sibling.

Preimplantation Genetic Testing - Aneuploidy (PGT-A)

Preimplantation Genetic Testing- Monogenic (PGT-M),

Preimplantation Genetic Testing- Structural Rearrangement (PGT-SR), 

Preimplantation Genetic Testing- HLA (PGT-HLA)

 

 

Carrier Genetic Testing 

Customized NGS based Carrier Genetic Screening to determine the risk of passing on genetic diseases for couples with or without history of Genetic diseases, planning a family to save the successive generation.

Common genetic disorders are screened in both husband and wife.

 

Cancer Genetics

Cell-free circulating tumour DNA to characterise tumour heterogeneity, identify personalised genetic and epigenetic alterations, monitor tumour burden, treatment response and monitor minimal residual disease.

Cell free tumour ctDNA for,

BRCAChekTM  - ctBREAST (10 genes)

ProstaChekTM - ctPROSTATE 

ColoChekTM - ctCOLON (14 genes)

PulmoChekTM - ctLUNGS (11 genes)

Various panels of gene sequencing that target cancer hotspots, SNVs, indels, CNVs and gene fusion from DNA and RNA – applicable for wide range of samples including FFPE, fine needle aspirates and core needle biopsies focusing on somatic pathogenic variants

 

Prenatal Diagnosis

 

Chorionic Villus sampling (CVS) is a prenatal diagnostic technique to determine chromosomal abnormalities or genetic disorders in the fetus during pregnancy.CVS is usually done between 11-13 weeks 6 Days of pregnancy.

Amniocentesis is a prenatal diagnostic technique in which amniotic fluid is withdrawn from amniotic sac with ultrasound guidance. Fetal cells can be then tested for genetic diseases. Amniocentesis is performed when a women is around 16 to 20 weeks of gestational age. 

 

Genetics of Recurrent Pregnancy Loss

 

Approximately 70% of human conceptions fail to achieve viability, with almost 50% of all pregnancies ending in miscarriage before the clinical recognition of a missed period or the presence of embryonal heart activity. Recurrent pregnancy loss (RPL), or recurrent abortion, is less common, occurring in about one in 100 pregnant women.

Karyotyping

Karyotyping couples that have had recurrent miscarriages detects balanced rearrangements in carrier parents who can be offered prenatal cytogenetic analysis to prevent the birth of a subsequent child with an unbalanced rearrangement. Current guidelines indicate routine karyotyping of couples experiencing recurrent miscarriage should be offered to see whether they are carriers of translocation.

 

Gene Sequencing

 

Whole-genome sequencing (WGS) is a comprehensive method for analyzing entire genomes. Genomic information has been instrumental in identifying inherited disorders, characterizing the mutations that drive cancer progression, and tracking disease outbreaks.

Clinical exome sequencing (CES) is a new state-of-the-art molecular diagnostic genetic test. It has the potential to rapidly and efficiently detect disease-causing genetic mutations within any gene in the human genome and is therefore becoming widely used in clinical practice.

RGCS is driven to offer the public and healthcare providers the advanced genetic testing services to ensure precise and personalised medicine for the general public.

 

Photo Caption

Dr. M.K.C. Nair, Vice Chancellor, Kerala University of Health Sciences  inaugurating the 3rd International Conference on Genetics, Fetal Medicine and Infertility( Fetolife 2018) organised in Kochi, jointly by Lifeline Hospital, Adoor Obstetrics and Gynaec Society, Kerala Federation of Obstetrics and  Gynaecology and Cochin Obstetrics and Gynaec Society. Dr. S. Pappachan, Director, Lifeline Hospital, Dr. Gracy Thomas, Dr. P. Shobhana, Daisy Pappachan, Dr. Don Leign, Dr. B. Prasannakumari and  Dr. David Cram  are also seen in the picture

 

 

 

 

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