Karyotype

Testing for Paediatric & Prenatal Cases

Test NoTest NameDescriptionTAT (Days)Specimen Requirement
1010BloodCyto - Constitutional20Green top (Na- Heparin tube), 3-4 ml blood
1020Amniotic fluidCyto - Constitutional202 Sterile tubes, 12.5 ml in each
1030CVSCyto - Constitutional20Sterile tube with Rinse media, 15-20 mg tissue
1040Cord BloodCyto - Constitutional20Green top (Na- Heparin tube), 1-2 ml blood
1050Product of ConceptionCyto - Constitutional20Sterile tube with Rinse media, 15-20 mg tissue

Fluorescence In Situ Hybridization (FISH)

Testing for Paediatric & Prenatal Cases

Test NoTest NameDescriptionTAT (Days)Specimen Requirement
2010Aneuploidy 13, 18, 21, X, Y (Prenatal)FISH Constitutional52 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue
2020Aneuploidy 13, 18, 21, X, Y (POC)FISH Constitutional7Sterile tube with Rinse media, 15-20 mg tissue
2011Aneuploidy 13, 18, 21, X, Y Plus CultureFISH and Karyotype Constitutional52 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue
2012Aneuploidy 13, 21 (Prenatal)FISH Constitutional52 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue
2013Aneuploidy 18, X, Y (Prenatal)FISH Constitutional52 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue
2015DiGeorge/Velocardiofacial)FISH Constitutional5Green top (Na- Heparin tube), 3-4 ml blood
2019Prader-Willi/AngelmanFISH Constitutional5Green top (Na- Heparin tube), 3-4 ml blood

Chromosomal Microarray (CMA)

Testing for Paediatric & Prenatal Cases

Test NoTest NameDescriptionTAT (Days)Specimen Requirement
3015Peripheral Blood (HD)CMA Constitutional30Purple top (EDTA tube), 3-4 ml blood
3022Amniotic Fluid (HD)CMA Constitutional202 Sterile tubes, 12.5 ml in each
3023Chorionic Villus Sample (HD)CMA Constitutional20Sterile tube with Rinse media, 15-20 mg tissue
3026Products of Conception (HD)CMA Constitutional302 Sterile tubes, 12.5 ml in each
3215Peripheral Blood (LD)CMA Constitutional30Purple top (EDTA tube), 3-4 ml blood
3222CMA in Amniotic Fluid (LD)CMA Constitutional202 Sterile tubes,12.5 ml in each
3226Chorionic Villus Sample (LD)CMA Constitutional20Sterile tube with rinse media, 15-20 mg tissue
3315Peripheral Blood (ULD)CMA Constitutional30Purple top (EDTA tube), 3-4 ml EDTA blood
3326Products of Conception (LD)CMA Constitutional30Sterile tube with rinse media, 15-20 mg tissue

NIPS Screening

Testing for Paediatric & Prenatal Cases

Test NoTest NameDescriptionTAT (Days)Specimen Requirement
7030Non Invasive Prenatal Screening (NIPS)Screening15Purple top (EDTA tube), 3-4 ml blood

Molecular

Testing for Paediatric & Prenatal Cases

Test NoTest NameDescriptionTAT (Days)Specimen Requirement
4041Cystic Fibrosis - Delta 508 MutationMolecular15Purple top (EDTA tube), 3-4 ml blood
4080Prader-Willi SyndromeMolecular10Purple top (EDTA tube), 3-4 ml blood
4110Y Chromosome MicrodeletionMolecular8Purple top (EDTA tube), 3-4 ml blood
4115Sperm DNA FragmentationMolecular5Fresh Semen in Sterile Container

Other Test