Diagnostics

Genome Foundation offers a variety of diagnostic services to deliver evidence-based medical diagnosis using modern molecular biology techniques. The test results provide information on whether a disease is present, has progressed, or has changed its course. Based on these results, one can decide which treatment regimen might be most appropriate for a particular patient at a given time.

Our team comprises medical professionals and doctorate qualified staff. We are available for consulting services regarding laboratory testing, result interpretation, and unexpected results. Please contact us when unusual cases are encountered and special testing arrangements are required.

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Female Infertility Tests
Test NameChromosomes/DNA AnalysedSample TypeTechnologyTurnaround Time (TAT)
MTHFR Polymorphisms677C>T and 1298A>C mutationsFresh 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 Polymorphisms677C>T and 1298A>C mutationsFresh 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
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
Chromosomes/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 Estriol)Serum/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.

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
Test NameBiochemical, Immunological, Assays/Genetics AnalysedSample TypeTechnologyTurnaround Time (TAT)
Clopidogrel Resistance GenotypingCYP2C19*2; CYP2C19*3; CYP2C19*17B/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;

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