Aneuploidy Screening
QF-PCR
Real-time quantitative PCR (qPCR) is a simple modification of PCR to quantify the amount of target DNA by introducing fluorescent or intercalating dyes used to measure gene expression or gene quantification including contiguous gene deletions or duplications. A simple method is described to quantify DNA copy number from human samples.
FISH
Fluorescence in situ hybridization (FISH) is the most convincing technique for locating the specific DNA sequences and diagnosis of genetic diseases.
This test is generally followed by a more comprehensive test, like karyotype or microarray analysis.
- Pre/ Postnatal FISH Panel- Chromosomes 13, 18, & 21
- FISH for Pre/ Postnatal Chromosomes 13, 18, 21, X and Y
Karyotyping
This test looks at your baby’s overall chromosomal structure to see if there are any abnormalities, such as extra or missing chromosomes. It can detect large chromosomal changes, but not microdeletions or microduplications.
Types:
- Karyotyping from Blood
- Karyotyping from Amniotic Fluid
Maternal Cell Contamination (MCC)
The potential presence of maternal cells in CVS or AF samples poses a significant preanalytical risk for prenatal misdiagnosis. This is particularly of concern with sensitive polymerase chain reaction (PCR)-based molecular assays that may lead to a positive result based on the presence of a very small amount of mutation-positive maternal cells.
Note: For AF*/CVS*/Cord Blood- Maternal cell contamination(MCC) is recommended in all prenatal tests. In its absence the laboratory is not liable for the accuracy of fetal test results.
Acceptable sample
- 4ml Maternal blood
TAT: 3 Working Days
Accreditations
The above accreditations have been granted to NEUBERG SUPRATECH REFERENCE LABORATORIES PRIVATE LIMITED (NSRL). The Neuberg Center for Genomic Medicine (NCGM) is affiliated to NSRL.