Karyotype
Testing for Paediatric & Prenatal Cases | ||||
| Test No | Test Name | Description | TAT (Days) | Specimen Requirement |
|---|---|---|---|---|
| 1010 | Blood | Cyto - Constitutional | 20 | Green top (Na- Heparin tube), 3-4 ml blood |
| 1020 | Amniotic fluid | Cyto - Constitutional | 20 | 2 Sterile tubes, 12.5 ml in each |
| 1030 | CVS | Cyto - Constitutional | 20 | Sterile tube with Rinse media, 15-20 mg tissue |
| 1040 | Cord Blood | Cyto - Constitutional | 20 | Green top (Na- Heparin tube), 1-2 ml blood |
| 1050 | Product of Conception | Cyto - Constitutional | 20 | Sterile tube with Rinse media, 15-20 mg tissue |
Fluorescence In Situ Hybridization (FISH)
Testing for Paediatric & Prenatal Cases | ||||
| Test No | Test Name | Description | TAT (Days) | Specimen Requirement |
|---|---|---|---|---|
| 2010 | Aneuploidy 13, 18, 21, X, Y (Prenatal) | FISH Constitutional | 5 | 2 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue |
| 2020 | Aneuploidy 13, 18, 21, X, Y (POC) | FISH Constitutional | 7 | Sterile tube with Rinse media, 15-20 mg tissue |
| 2011 | Aneuploidy 13, 18, 21, X, Y Plus Culture | FISH and Karyotype Constitutional | 5 | 2 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue |
| 2012 | Aneuploidy 13, 21 (Prenatal) | FISH Constitutional | 5 | 2 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue |
| 2013 | Aneuploidy 18, X, Y (Prenatal) | FISH Constitutional | 5 | 2 Sterile tubes, 12.5 ml amniotic fluid in each OR Sterile tube with Rinse media, 15-20 mg tissue |
| 2015 | DiGeorge/Velocardiofacial) | FISH Constitutional | 5 | Green top (Na- Heparin tube), 3-4 ml blood |
| 2019 | Prader-Willi/Angelman | FISH Constitutional | 5 | Green top (Na- Heparin tube), 3-4 ml blood |
Chromosomal Microarray (CMA)
Testing for Paediatric & Prenatal Cases | ||||
| Test No | Test Name | Description | TAT (Days) | Specimen Requirement |
|---|---|---|---|---|
| 3015 | Peripheral Blood (HD) | CMA Constitutional | 30 | Purple top (EDTA tube), 3-4 ml blood |
| 3022 | Amniotic Fluid (HD) | CMA Constitutional | 20 | 2 Sterile tubes, 12.5 ml in each |
| 3023 | Chorionic Villus Sample (HD) | CMA Constitutional | 20 | Sterile tube with Rinse media, 15-20 mg tissue |
| 3026 | Products of Conception (HD) | CMA Constitutional | 30 | 2 Sterile tubes, 12.5 ml in each |
| 3215 | Peripheral Blood (LD) | CMA Constitutional | 30 | Purple top (EDTA tube), 3-4 ml blood |
| 3222 | CMA in Amniotic Fluid (LD) | CMA Constitutional | 20 | 2 Sterile tubes,12.5 ml in each |
| 3226 | Chorionic Villus Sample (LD) | CMA Constitutional | 20 | Sterile tube with rinse media, 15-20 mg tissue |
| 3315 | Peripheral Blood (ULD) | CMA Constitutional | 30 | Purple top (EDTA tube), 3-4 ml EDTA blood |
| 3326 | Products of Conception (LD) | CMA Constitutional | 30 | Sterile tube with rinse media, 15-20 mg tissue |
NIPS Screening
Testing for Paediatric & Prenatal Cases | ||||
| Test No | Test Name | Description | TAT (Days) | Specimen Requirement |
|---|---|---|---|---|
| 7030 | Non Invasive Prenatal Screening (NIPS) | Screening | 15 | Purple top (EDTA tube), 3-4 ml blood |
Molecular
Testing for Paediatric & Prenatal Cases | ||||
| Test No | Test Name | Description | TAT (Days) | Specimen Requirement |
|---|---|---|---|---|
| 4041 | Cystic Fibrosis - Delta 508 Mutation | Molecular | 15 | Purple top (EDTA tube), 3-4 ml blood |
| 4080 | Prader-Willi Syndrome | Molecular | 10 | Purple top (EDTA tube), 3-4 ml blood |
| 4110 | Y Chromosome Microdeletion | Molecular | 8 | Purple top (EDTA tube), 3-4 ml blood |
| 4115 | Sperm DNA Fragmentation | Molecular | 5 | Fresh Semen in Sterile Container |
