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.

Download Forms
Female Infertility Tests
Test Name Chromosomes/DNA Analysed Sample Type Technology Turnaround Time (TAT)
MTHFR Polymorphisms 677C>T and 1298A>C mutations Fresh blood (EDTA) Sanger Sequencing 8-10 working days
Karyotyping All chromosomes Fresh blood (Heparin) Giemsa Staining 10-12 working days
HPV Screening N.A. N.A. N.A. 8 working days
Thrombophilia Mutation Panel Factor V Leiden, Factor V R2, Prothrombin, etc Fresh blood (EDTA) Microarray 2-3 weeks
TB Screening & PCOD N.A. Fresh blood (EDTA) N.A. 1 week
Polar Body Biopsy 13, 18, 21, X (chromosomes) Polar body biopsy Quantitative Fluorescent (qfPCR) 3-4 working days
Male Infertility Tests
Test Name Chromosomes/DNA Analysed Sample Type Technology Turnaround Time (TAT)
MTHFR Polymorphisms 677C>T and 1298A>C mutations Fresh blood (EDTA) Sanger Sequencing 8-10 working days
Karyotyping All chromosomes Fresh blood (Heparin) Giemsa Staining 10-12 working days
HPV Screening N.A. N.A. N.A. 8 working days
Y chromosome Microdeletions Y chromosomes Blood/Semen Quantitative Fluorescent (qfPCR) 7-8 working days
Sperm DNA Fragmentation / Sperm DNA Integrity Test N.A. Semen DNA fragmentation index 7-10 working days
Pre-Conception Tests
# Test Name Tat Sample Type
1 Couple carrier genetic testing (CGT) 6-7 weeks B/E*
2 Couple karyotyping 10-12 working days B/H**
3 Couple MTHFR screening 10-12 working days B/E*

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

Pre-Implantation Genetic Testing
Chromosomes/DNA Analysed Sample Type Technology Turnaround Time (TAT)
Pre-Implantation Genetic Screening (PGS) 13, 18, 21, X, Y (chromosomes) 3-4 cells from Day 3 or Day 5 embryos Quantitative Fluorescent (qfPCR) 3-4 working days
Pre-Implantation Genetic Diagnosis (PGD) for monogenic disorders All chromosomes (specific gene testing) 3-4 cells from Day 3 or Day 5 embryos Sanger Sequencing 10-12 working days
Prenatal Genetic Tests
Test Name Biochemical, Immunological, Assays/Genetics Analysed Sample Type Technology Turnaround Time (TAT)
Alpha-Feto Protein (AFP) Immunological Assays Amniotic Fluid Delfia 5 days
 AFP on Maternal Serum Immunological Assays Serum Delfia 5 days
Double marker test (Free b-HCG + PAPP-A) First Trimester Prenatal screening Serum/DBS Delfia 5 days
Triple marker test (AFP+Free b-HCG+Unconjugated Estriol) Serum/DBS Delfia 5 days
Quadruple marker test (AFP + Free b-HCG + Unconjugated ESTRIOL + Inhibin A) Serum/DBS Delfia 5 days
Penta Screen Test (AFP, beta hCG, unconjugated Estriol, Inhibin, PLGF) Serum/DBS Delfia 5 days
Non – invasive prenatal testing (NIPT) – Illumina /Ion – Torrent 13, 18, 21, X, Y (chromosomes) Peripheral Blood of Mother (8 gestational weeks onwards) NGS 7-10 working days
Aneuploidy Screening 13, 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 Microscope 2 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 Microscope 2 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) Microarray 3-4 weeks
Whole exome sequencing *If suspected diagnosis or index child has an undiagnosed disorder, WES recommended followed by TMA All coding regions AF/CVS/POC AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks) (Termination up to 24 weeks) NGS 6-7 weeks
Whole genome sequencing *If suspected diagnosis or index child has an undiagnosed disorder, WGS recommended followed by TMA All coding & on coding regions AF/CVS/POC AF (13-16 weeks up to 22 weeks) CVS (13 -18 week up to 19 weeks) (Termination up to 24 weeks) NGS 6-8 weeks
Beta-Thalassemia HBB – 3 exons AF/CVS/Foetal Blood Sanger sequencing 3 weeks  
Sickle cell anaemia HBB – exon1 AF/CVS/Foetal Blood Sanger sequencing 3 weeks

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

Genetic Tests for Infants/Children/Adult
# Test Name Tat Sample Type
1 New-born Screening (NBS) 5 working days Dried blood spot
2 GCMS Panel on Urine 5 working days Urine
3 Tandem Mass Spectrometry (TMS) 5 working days Dried blood spot
4 Whole Exome Sequencing (WES) 6-7 weeks B/E* Tissue biopsies (1cm x 1cm)
5 Beta-Thalassemia 12-15 working days B/E*
6 Sickle Cell Anaemia 12-15 working days B/E*
7 G6PD 3-4 weeks B/E*
8 DMD (MLPA) 3-4 weeks B/E*
9 SMA (MLPA) 3-4 weeks B/E*
10 LHON disease (3 common mutations) 3-4 weeks B/E*
11 MTHFR gene polymorphisms 12-15 working days B/E*
12 Spino Cerebral Ataxia (SCA) Panel (MLPA) 3-4 weeks B/E*
13 Mal de Meleda syndrome 12-15 working days B/E*
14 Targeted Mutation Analysis Dependent on disorder being screened B/E*
15 Karyotyping 10-12 working days B/H**

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

Test Name Biochemical, Immunological, Assays/Genetics Analysed Sample Type Technology Turnaround Time (TAT)
Targeted approach for gut microbiome V3/V4 region of 16sRNA Faecal/Stool sample NGS 8-9 weeks
Shotgun whole genome sequencing for gut microbiome N.A. Faecal/Stool sample NGS 8-9 weeks
Test Name Biochemical, Immunological, Assays/Genetics Analysed Sample Type Technology Turnaround Time (TAT)
Clopidogrel Resistance Genotyping CYP2C19*2; CYP2C19*3; CYP2C19*17 B/E* Sanger sequencing 12-15 working days
Statins All genes analysed B/E* NGS 6-7 weeks
Ticagrelor SLCO1B1; CYP3A4; CYP3A5; UGT2B7 B/E* Sanger sequencing 12-15 working days
Warfarin CYP2C9*2, CYP2C9*3, VKORC1 B/E* Sanger sequencing 12-15 working days

B/E* = Fresh blood in EDTA vial;

Test Name Biochemical, Immunological, Assays/Genetics Analysed Sample Type Technology Turnaround Time (TAT)
Paternity/Maternity Testing (24 STRs) 2-3 ml EDTA blood Fragment analysis 4-5 days
Relationship Establishment/Kinship test  (for organ transplant clinicians) (24 STRs) 2-3 ml EDTA blood Fragment analysis 4-5 days
Mitochondrial genome profiling HV1 & HV2 regions 2-3 ml EDTA blood Sanger sequencing 3 weeks
HLA Typing using NGS platform 6 loci — HLA A, B, C, DRB1, DQB1, DP 2-3 ml EDTA blood NGS 7-8 days
Test Name Biochemical, Immunological, Assays/Genetics Analysed Sample Type Technology Turnaround Time (TAT)
Sanger Sequencing of PCR products/plasmids NA PCR products/plasmids Sanger sequencing 3-4 days
× How can I help you?