Oncology
Test Name Clinical Position and Significance of the Test in Clinical Practice Method
Hotspot panel Identifies mutations in fifty genes most commonly involved in cancers,enables use of targeted therapies NGS
BRCA 1 & 2 Testing for BRCA1/2 mutations associated with high lifetime risk of breast cancer (80-85%) and ovarian cancer (20-40%). Essential for genetic counseling, preventive screening and therapeutic interventions NGS, PCR-sequencing
Circulating tumor cell Non-invasive technique to monitor for cancers, assess disease recurrence and response to treatment Flow cytometry
Inherited Cancer Panel Comprehensive testing for germline mutations in genes implicated in increased cancer risk NGS
Breast cancer IHC markers Breast Cancer Marker panel: ER, PgR, HER-2/neu, Ki-67; Classification of breast cancer, prognostics and theranostics IHC
Breast cancer FISH markers Her-2/Neu- To confirm amplification of Her2/Neu; assess eligibility for Herceptin treatment; prognostic marker in breast cancer FISH
Lung cancer IHC markers Classification of lung tumors: Mesothelioma versus Adenocarcinoma panel, Lung adenocarcinoma versus metastatic extrapulmonary adenocarcinoma IHC
Lung cancer FISH markers ALK/EML-4 translocation, ROS1 rearrangement – Assess eligibility for targeted therapy FISH
Colorectal cancer tests Germline mutations in Adenomatous polyposis coli (APC) and mismatch repair (MMR) genes i.e. MLH1, MSH2, MSH6 and PMS2 are associated with increased lifetime risk for colorectal cancer (90% for APC, 40-68% for MLH1 and MSH2); Essential for genetic counseling and preventive screening NGS, PCR-sequencing
PIK3CA Mutations in PIK3CA observed in approximately 25% of breast cancers, mainly those with ER or HER2 expression; Mutations in PIK3CAmay indicate resistance to anti-HER2 and anti-estrogen therapies NGS, PCR-sequencing
PTEN Germline mutations of PTEN gene cause Cowden syndrome and confers increased risk for breast cancer (50%), thyroid cancer (10%), and endometrial cancer (5-10%); Essential for genetic counseling and preventive screening NGS
Gynaecology & IVF
Test Name Clinical Position and Significance of the Test in Clinical Practice Method
NIPT (under validation) Detection of chromosomal aneuploides using mother’s blood
PGD Detect abnormalities in embryo at preimplantation stage PCR, FISH, NGS
PGS Detect aneuploidies in all 24 chromosomes at preimplantation stage NGS
TB PCR Tri-marker based real time RT-PCR affords rapid and efficient diagnosis of TB infection, and differentiates viable, non-viable and dormant mycobacteria PCR
Y Microdeletions Determine the cause of infertility in men with nonobstructive azoospermia or moderate to severe oligospermia; to predict effectiveness of assisted reproductive technologies in men with specific Y chromosome microdeletions PCR
Chromosomal Analysis- Karyotyping Detect numerical and structural chromosomal aberrations Karyotyping
MTHFR Mutation Required for women with a history of pregnancy complications, recurrent miscarriages, or birth of child with neural defects Multiplex PCR
Chromosomal Analysis of POC Detect chromosomal aberrations in POC Karyotyping/FISH
Prenatal Analysis of Chorionic Villi Prenatal detection of chromosomal abnormalities Karyotyping/FISH
BRCA 1 and 2 BRCA1/2 mutations are associated with high lifetime risk of breast (80-85%) and ovarian (20-40%) cancer. Essential for genetic counseling, preventive screening and therapeutic interventions NGS, PCR-sequencing
Pediatrics
Test Name Clinical Position and Significance of the Test in Clinical Practice Method
ACTN3 Genotyping (Sports Gene Test) Assess success in sports related to endurance PCR-sequencing
Chromosomal Analysis- Karyotyping Detect numerical and structural chromosomal aberrations Karyotyping
Alpha Thalassemia Testing Diagnosis of alpha-thalassemia; Carrier screening for individuals from high risk populations; Confirm a clinical diagnosis of Hb Bart hydrops fetalis syndrome or hemoglobin H (HbH) disease Multiplex PCR
Duchenne/Becker Muscular Dystrophy Males with a clinical diagnosis or symptoms of Duchenne or Becker muscular dystrophy; Individuals with previous deletion/duplication test results that do not clearly identify the breakpoints and size of the deletion or duplication Multiplex PCR
Fragile X (FMR 1) Mutation Screen Determination of carrier status for individuals with a family history of fragile X syndrome or X-linked mental retardation; Confirmation of diagnosis of fragile X syndrome, fragile X tremor/ataxia syndrome, or premature ovarian failure caused by expansions in the FMR1 gene. Prenatal diagnosis of fragile X syndrome when there is a documented FMR1 expansion in the family. PCR-Sequencing
Glucose-6 Phosphate Dehydrogenase (G6PD) Gene Mutations Initial screening for GP6D deficiency in high risk ethnicity ARMS PCR
Rett Syndrome DNA Sequencing (MeCP2 Mutation) Early detection of Rett syndrome PCR-sequencing
Aneuploidy Detection(13,21,18, X and Y) by FISH Detect commonly seen trisomies and numerical abnormalitiesin newborns FISH
Infection & other specialities
Test Name Clinical Position and Significance of the Test in Clinical Practice Method
Septicemia Panel In addition to blood culture and sensitivity, bacterial and fungal species are detected by analyzing their DNA signatures by PCR. This enables rapid detection of pathogens (8 hours) for early intervention PCR, Microbiology (Automated blood culture system, Automated identification & susceptibility system), Biochemistry
Atypical Pneumonia Detects causal organism of atypical pneumonia by certain bacteria including Legionella pneumophila, Mycoplasma pneumonia, Chlamydophilapneumoniae PCR, ELISA
Fever of unknown origin Diagnose cause of fever higher than 38.3’C and lasting for 3 weeks or more PCR, Microbiology (Automated blood culture system, Automated identification & susceptibility system)
Fungi panel Detection of most common fungal pathogens Molecular Pathology, Microbiology, PCR Sequencing
Epstein-Barr Virus by PCR Rapid qualitative detection of EBV; significant in infectious mononucleosis resulting in benign lymphoproliferative conditions in organ transplant recipients, immunosuppressed individuals and AIDS patients PCR
Hepatitis B Virus Genotyping Assess HBV genotypes (A-H), mutations in precore (pre-C), and basal core promoter (BCP) region of HBV. HV genotype have been associated with response to interferon-based therapy and hence have prognostic value PCR-sequencing
Hepatitis C Virus RNA Quantitative Monitor antiviral therapy and/or disease progression of HCV Real-Time PCR
ERBB2 (HER2/neu) Gene Amplification by PCR Assess eligibility for Herceptin treatment, prognostic marker in breast cancer PCR-sequencing
EGFR mutation Predictive testing for anti-EGFR therapy in lung cancer PCR-sequencing
FACTOR V: Leiden G1691A Mutation Done in females experiencing unexplained miscarriages, especially those occurring in the second or third trimester of pregnancy Multiplex PCR
Culture And Susceptibility – Aerobic/Anaerobic Bacteria For detection of bacterial pathogens and their drug resistance in infectious diseases, helps in setting up treatment plan Microbiology-Automated identification & susceptibility system
Blood Culture & Sensitivity-Aerobic/Anaerobic For detection of Aerobic/Anaerobic pathogens and their drug resistance in blood stream infections including sepsis, helps in setting up treatment plan Microbiology-Automated blood culture system, Automated identification & susceptibility system
Fungi (Yeast)-Susceptibility For detection of yeast drug susceptibility with MIC, helps in setting up treatment plan with required dosage of antifungal agents. Microbiology-Sensititre
Pharmacogenomics
Test Name Clinical Position and Significance of the Test in Clinical Practice Method
Warfarin Sensitivity by Genotyping (CYP2C9*2,CYP2C9*3 &VKORC1) Warfarin is a commonly prescribed anti-coagulant. The dose required to achieve a stable therapeutic effect varies widely among individuals.Patients having the variant *2 or *3 alleles of CYP2C9 and/or the -1639A VKOR allele will require a reduced warfarin dose PCR-RFLP
Cytochrome P450 2D6 (CYP2D6) 14 Variants and Gene Duplication Pretherapeutic testing to identify individuals who should avoid or have different dosing of medications metabolized by CYP2D6 PCR-sequencing
ADRB2 genotypingfor B-2-agonistresponsiveness Identify haplotypes of the ADRB2 gene that may have clinical implications for asthama severity, cardiovascular function, obesity, and response to beta-agonist PCR-sequencing

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