Specialised Offerings

At iGenetic Diagnostics, we strive to use a variety of diagnostic tools including advanced sequencing technology to enable a thorough assessment of crucial genetic alterations that ”drive” cancer cell growth and lead to resistance to therapies. Routine molecular testing only assesses mutation hot-spots that are associated with cancer under investigation. However, there is evidence that mutations at non-hotspot

locations may also confer sensitivity to approved therapies. Besides, genetic alterations that are more prevalent in one malignancy may also predict response to therapeutic agents approved for a distinct tumor type. This may lead to a significant proportion of patients being excluded from potentially effective therapeutics based on incomplete genetic profiling. Hence, testing extensively for mutations is imperative as many new agents targeting different pathways are now being approved or in trials.

We use a massively parallel sequencing technology called Next Generation Sequencing (NGS) that allows us to sequence DNA and RNA much more quickly and is reasonable than Sanger sequencing. The aim is to provide patients and clinicians better therapeutic options based on the patient’s molecular profile of clinically actionable mutations and enable improved progression free survival and quality of life especially during treatment.

Technologies used at iGenetic Diagnostics

  • Next Generation Sequencing (NGS)
  • Fluorescence in situ hybridization (FISH)
  • Conventional PCR
  • Karyotyping
  • Polymerase Chain Reaction (PCR)
  • Flow Cytometry
  • Reverse Transcriptase PCR
  • HRP polymer based detection (Gold standard)
  • Sanger Sequencing
  • for detection of protein expression
  • Methylation-Specific PCR
  • Routine Biochemistry
  • Restriction Fragment Length
  • Polymorphism (RFLP)

iGenetic Diagnostics offers a comprehensive array of advanced diagnostic technologies ranging from immunohistochemistry, FISH and PCR to massively parallel gene sequencing based technology now emerging as Next Generation Sequencing (NGS), to provide clinicians a 360 degree view of their patients with correlation across test methods.

Diagnosis of Breast Cancer at iGenetic Diagnostics

Molecular profiling of somatic mutations allows selection of appropriate therapies in individuals afflicted with breast cancer. Besides, screening for molecular markers is important in individuals that have a family history of breast cancer. Testing for mutations in BRCA1/2 and other markers can identify individuals who may benefit from genetic counselling and preventive screening and therapies.

Examples of samples handled

  • Fine needle aspiration biopsy
  • For diagnosis based on molecular markers: HER2, ER/PR, PIK3CA, PTEN, EGFR, Cancer Hotspot Panel
  • Core needle biopsy - Stereotactic core needle biopsy
  • For Inherited Breast Cancer Risk Assessment: BRCA1 & BRCA2 Panel, PTEN, TP53, CDH1, STK11
  • Vacuum-assisted core biopsy
  • Surgical biopsy

Diagnosis of Lung Carcinoma at iGenetic

NSCLC (Non-Small Cell Lung Cancer) is the predominant form of lung cancer accounting for 80-85% of all lung cancer cases while SCLC (Small Cell Lung Cancer) contributes the remaining 15-20%. Molecular characterization of lung cancer plays a major role in differentiating between tumor types and deciding on therapeutic approach. Several targeted therapies are available for NSCLC with the aim of improving survival of patients with metastatic disease.

Examples of samples handled

  • Bronchoscopic biopsy
  • Fine needle aspiration using endobronchial ultrasound (EBUS)
  • Mediastinal node sampling
  • For implication of molecular diagnostics in therapy: EGFR, EML-4/ALK, KRAS, BRAF, MET, HER2/neu/ CERB2/ERBB2, RET, ROS1 & others.
  • Fine needle aspiration using CT guidance
  • Open lung biopsy

Diagnosis of Colorectal Cancer at iGenetic Diagnostics

Molecular profiling of somatic mutations allows selection of appropriate therapies in individuals afflicted with colorectal cancer. Besides, screening for molecular markers is important in individuals that have a family history of colorectal cancer. Testing for mutations in Adenomatous Polyposis Coli (APC)/Mismatch repair (MMR) genes and other markers can identify individuals who may benefit from genetic counselling and preventive screening and therapies.

Examples of samples handled

  • Colonoscopy (Biopsy during the procedure-polypectomy)
  • Flexible Sigmoidoscopy (Biopsy during the procedure-polypectomy)
  • Cancer target panel: KRAS, EGPR, BRAF, AKT1, ALK, DDR2 & others.

Worldwide, infectious diseases are responsible for a quarter to a third of all deaths and could be lethal in pediatric population where it accounts for more than half of all deaths in children under the age of five. Of the top ten causes of death compiled by the World Health Organization, five are due to infectious diseases. Infection is a complex process of interaction between pathogen and human body and is composed of three factors: pathogen, host and environment. The identification of the pathogens causing infectious diseases involves direct and indirect methods of detecting: Viruses, Chlamydia, Rickettsia, Mycoplasma, Spirochete, Bacteria, Fungus, Protozoa, Helminths etc.

The iGenetic Advantage

  • Reports within 24 hrs*
  • Diagnosis with 100% Specificity & High Sensitivity
  • Customizable Panels for all types of Specimens

Some of Our Unique Offerings

  • Comprehensive Panels for a variety of conditions: Detection of bacteria, fungi and viruses known to cause a particular condition E.g. Septicemia panel, Comprehensive CNS panel, Bacterial and Fungal CNS panel, RNA virus panel, Atypical pneumonia panel, Febrile Neutropenia panel, Candida species identification by PCR, Pathogenic fungi identification panel
  • Tuberculosis (TB) Detection with differentiation between dead, dormant and live Mycobacteria
  • Antibiotic resistance detection by Molecular methods
  • For infectious diseases diagnosis, we use Multiplex PCR method. It helps simplify one target sequence using more than one pair of primers
  • Single pathogen detection

In Septicemia

iGenetic has in-house assays for molecular detection of pathogen and antibiotic resistance. These assays are done directly from the samples and have been verified by CAP proficiency testing(PT).

In India, the incidence of growth and development of neuro-epidemiology is on the rise from the last four decades. It is estimated that around 30 million people are affected with neurological disorders (excluding neuro-infections and traumatic injuries). Diagnosis of these complex disorders is difficult with conventional methodologies. Use of recent technologies - newer sequencing & array techniques like Next Generation Sequencing (NGS) has made it possible to examine multiple genes in a single reaction.

Leading to:

  • Rapid identification of genetic disorders
  • Accurate diagnosis of many complex neurological disorders

We focus on understanding the genetic basis of complex neurological disorders like-

  • Neurometabolic Disorders: Neuronal ceroid lipofuscinosis, Krabbe disease, Maple Syrup Urine Disease & others.
  • Neuromuscular Disorders: Spinal Muscular Atrophy, Duchenne Muscular Dystrophy, Limb-Girdle Muscular, Dystrophy & others.
  • Neurocutaneous Disorders: Eurofibromatosis (NF), Tuberous sclerosis (TS) & others.
  • Neurodegenerative disorders: Spinocerebellar ataxia (SCA), Alzheimer’s disease, Spinal Muscular Atrophy (SMA) & others.
  • Epileptic disorders: Infantile spasms, Epilepsy, Sturge-Weber Syndrome, Doose Syndrome & others.
  • Movement disorders: Parkinson’ disease, Huntington’s disease, Chorea, Ataxia & others.
  • Mitochondrial disorders: Mitochondrial Myopathy,Leigh syndrome & others.

At iGenetic, we use different methods for detecting complex neurological disorders like Next Generation Sequencing (NGS), Multiplex Ligation-dependent Probe Amplification (MLPA), Fragment analysis PCR, PCR Sequencing, Multiplex PCR etc

iGenetic-Leader in Clinical genomics

  • Most advanced Next generation sequencing machines
  • With having a choice of selecting either Single Gene Test, Gene Panel, Clinical Exome, Whole Exome or Whole Genome based on your needs
  • Integrated analysis and data reporting platform
  • Cost effective tests

iGenetic’s specialised diagnostic panel is for Obstetrics, Gynaecology, Infertility & IVF

The aim of these diagnostic panels is to provide medical practitioners with a set of all relevant diagnostic parameters for collecting diagnostic evidence leading to quicker clinical conclusions.

  • Panels for Complications During Pregnancy
  • Advanced Prenatal Panel
  • Panels for Recurrent Pregnancy Loss (RPL ) and Bad Obstetric History (BOH)
  • Advanced Infertility and IVF Panels including Karyotyping Analysis, FISH Analysis,
  • Infertility Screening Panels
  • Sperm DNA fragmentation by Flow Cytometry, etc.
  • Antenatal Panels

Clinician’s convenience:

  • Comprehensive laboratory evidence for defining the course of screening, definitive or differential diagnosis and theranostic purpose
  • Single set of clinical specimen lead to more diagnostic data
  • Cost effectiveness

At iGenetic, we provide specialised tests like aDvans

  • A Dvans is a specialised test that screens for 4 biomarkers found in mother’s serum —alpha-fetoprotein (AFP), free beta human chorionic gonadotrophin (beta hCG), placental growth factor (PIGF), and pregnancy associated plasma protein A (PAPP-A)
  • These are 4 CE-marked assays —now available for the first time for Down’s Syndrome screening in the first trimester

Entire range of testing for Ob-Gyn & infertility, from simple biochemical markers for Down’s & Pre-eclamsia to more complex tests dealing with genetic disorders.