• Genetic Tests related to Infertility Issues

    Female Infertility Tests
    Test NameChromosomes/DNA AnalysedSample TypeTechnologyTurnaround Time (TAT)
    MTHFR Polymorphisms13, 18, 21, X, Y (chromosomes)Fresh blood (EDTA)Sanger Sequencing8-10 working days
    KaryotypingAll chromosomesFresh blood (Heparin)Giemsa Staining10-12 working days
    HPV ScreeningN.A.N.A.N.A.8 working days
    Thrombophilia Mutation PanelFactor V Leiden, Factor V R2, Prothrombin, etcFresh blood (EDTA)Microarray2-3 weeks
    TB Screening & PCODN.A.Fresh blood (EDTA)N.A.1 week
    Polar Body Biopsy13, 18, 21, X (chromosomes)Polar body biopsyQuantitative Fluorescent (qfPCR)3-4 working days
    Male Infertility Tests
    Test NameChromosomes/DNA AnalysedSample TypeTechnologyTurnaround Time (TAT)
    MTHFR Polymorphisms13, 18, 21, X, Y (chromosomes)Fresh blood (EDTA)Sanger Sequencing8-10 working days
    KaryotypingAll chromosomesFresh blood (Heparin)Giemsa Staining10-12 working days
    HPV ScreeningN.A.N.A.N.A.8 working days
    Y chromosome MicrodeletionsY chromosomesBlood/SemenQuantitative Fluorescent (qfPCR)7-8 working days
    Sperm DNA Fragmentation / Sperm DNA Integrity TestN.A.SemenDNA fragmentation index7-10 working days

  • Mother & Child-centric Genetic Tests

    Pre-Conception Tests
    #TEST NAMETATSAMPLE TYPE
    1Couple carrier genetic testing (CGT)6-7 weeksB/E*
    2Couple karyotyping10-12 working daysB/H**
    3Couple MTHFR screening10-12 working daysB/E*

    B/E* = Fresh blood in EDTA vial.                 B/H** = Fresh blood in sodium heparin vial.

    Pre-Implantation Genetic Testing
    Test NameChromosomes/DNA AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Pre-Implantation Genetic Screening (PGS)13, 18, 21, X, Y (chromosomes)3-4 cells from Day 3 or Day 5 embryosQuantitative Fluorescent (qfPCR)3-4 working days
    Pre-Implantation Genetic Diagnosis (PGD) for monogenic disordersAll chromosomes (specific gene testing)3-4 cells from Day 3 or Day 5 embryosSanger Sequencing10-12 working days
    Prenatal Genetic Tests
    Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Alpha-Feto Protein (AFP)Immunological AssaysAmniotic FluidDelfia5 days
     AFP on Maternal SerumImmunological AssaysSerumDelfia5 days
    Double marker test(Free b-HCG + PAPP-A) First Trimester Prenatal screeningSerum/DBSDelfia5 days
    Triple marker test(AFP+Free b-HCG+Unconjugated EstriolSerum/DBSDelfia5 days
    Quadruple marker test(AFP + Free b-HCG + Unconjugated ESTRIOL + Inhibin A)Serum/DBSDelfia5 days
    Penta Screen Test(AFP, beta hCG, unconjugated Estriol, Inhibin, PLGF)Serum/DBSDelfia5 days
    Non – invasive prenatal testing (NIPT) – Illumina /Ion - Torrent13, 18, 21, X, Y (chromosomes)Peripheral Blood of Mother (8 gestational weeks onwards)NGS7-10 working days
    Aneuploidy Screening13, 18, 21, X,Y (chromosomes)AF/CVS/POC Quantitative Fluorescent (qfPCR)7-8 working days
    Foetal Karyotyping 13, 18, 21, X,Y (chromosomes)AF/CVS/POC AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks) (Termination up to 24 weeks)Upright Microscope2 weeks
    Fluorescent in-situ hybridization (FISH)13, 18, 21, X, Y (chromosomes)AF & CVS AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks)Upright Microscope2 weeks
    Chromosomal Microarray (CMA)13, 18, 21, X, Y (chromosomes)AF & CVS AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks)Microarray3-4 weeks
    Whole exome sequencing *If suspected diagnosis or index child has an undiagnosed disorder, WES recommended followed by TMAAll coding regionsAF/CVS/POC AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks) (Termination up to 24 weeks)NGS6-7 weeks
    Whole genome sequencing *If suspected diagnosis or index child has an undiagnosed disorder, WGS recommended followed by TMAAll coding & on coding regionsAF/CVS/POC AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks) (Termination up to 24 weeks)NGS6-8 weeks
    Beta-ThalassemiaHBB - 3 exonsAF/CVS/Foetal BloodSanger sequencing3 weeks  
    Sickle cell anaemiaHBB - exon1AF/CVS/Foetal BloodSanger sequencing3 weeks

    AF = Amniotic Fluid;    CVS = Chorionic Villus Sampling;   POC = Product of conception

    Genetic Tests for Infants/Children/Adult
    #TEST NAMETATSAMPLE TYPE
    1New-born Screening (NBS)5 working daysDried blood spot
    2GCMS Panel on Urine5 working daysUrine
    3Tandem Mass Spectrometry (TMS)5 working daysDried blood spot
    4Whole Exome Sequencing (WES)6-7 weeksB/E* Tissue biopsies (1cm x 1cm)
    5Beta-Thalassemia12-15 working daysB/E*
    6Sickle Cell Anaemia12-15 working daysB/E*
    7G6PD3-4 weeksB/E*
    8DMD (MLPA)3-4 weeksB/E*
    9SMA (MLPA)3-4 weeksB/E*
    10LHON disease (3 common mutations)3-4 weeksB/E*
    11MTHFR gene polymorphisms12-15 working daysB/E*
    12Spino Cerebral Ataxia (SCA) Panel (MLPA)3-4 weeksB/E*
    13Mal de Meleda syndrome12-15 working daysB/E*
    14Targeted Mutation AnalysisDependent on disorder being screenedB/E*
    15Karyotyping10-12 working daysB/H**

    B/E* = Fresh blood in EDTA vial;                 B/H** = Fresh blood in sodium heparin vial.

  • Genetic Tests for Gut Microbiota

    Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Targeted approach for gut microbiomeV3/V4 region of 16sRNAFaecal/Stool sampleNGS8-9 weeks
    Shotgun whole genome sequencing for gut microbiomeN.A.Faecal/Stool sampleNGS8-9 weeks

  • Genetic Tests for Pharmocogenetics

    Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Clopidogrel Resistance GenotypingCYP2C19*2
    CYP2C19*3 CYP2C19*17    		B/E*Sanger sequencing12-15 working days
    StatinsAll genes analysedB/E*NGS6-7 weeks
    TicagrelorSLCO1B1; CYP3A4; CYP3A5; UGT2B7B/E*Sanger sequencing12-15 working days
    WarfarinCYP2C9*2, CYP2C9*3, VKORC1B/E*Sanger sequencing12-15 working days

    B/E* = Fresh blood in EDTA vial;

  • Genetic Tests for DNA Forensics & HLA Typing

    Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Paternity/Maternity Testing(24 STRs)2-3 ml EDTA bloodFragment analysis4-5 days
    Relationship Establishment/Kinship test  (for organ transplant clinicians)(24 STRs)2-3 ml EDTA bloodFragment analysis4-5 days
    Mitochondrial genome profilingHV1 & HV2 regions2-3 ml EDTA bloodSanger sequencing3 weeks
    HLA Typing using NGS platform6 loci -- HLA A, B, C, DRB1, DQB1, DP2-3 ml EDTA bloodNGS7-8 days

  • Sanger Sequencing Services

    Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
    Sanger Sequencing of PCR products/plasmidsNAPCR products/plasmidsSanger sequencing3-4 days
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