Test Directory

Aneuploidy Testing (by Low Pass Whole Genome Seq)

Karyotyping - Amniotic Fluid

Analysis and interpretation of aneuploidy and structural chromosome rearrangements in prenatal samples (Amniotic fluid )

Karyotyping - CVS

Karyotyping - MSC

Karyotyping - Peripheral Blood

Karyotyping is a laboratory technique used to analyze and visualize an individual's chromosomes, which are the rod-shaped structures containing genetic information within the cell nucleus. Humans typically have 46 chromosomes organized into 23 pairs, consisting of 22 pairs of autosomes and one pair of sex chromosomes (X and Y). Karyotyping is particularly valuable for diagnosing chromosomal abnormalities, which can arise from errors in cell division, such as nondisjunction. The procedure involves collecting a sample, often from white blood cells, stimulating cell division, and then halting the process to prepare the chromosomes for visualization. The chromosomes are stained, photographed, and arranged into pairs for analysis. Common disorders identified through karyotyping include Down syndrome, Klinefelter syndrome, and Turner syndrome. Advances in technology have enhanced karyotyping methods, including the development of digital karyotyping and fluorescence techniques, which improve the ability to detect chromosomal abnormalities. Karyotyping remains an essential tool in genetics, fertility treatments, and prenatal diagnostics.

Karyotyping - POC

Analysis and interpretation of aneuploidy and structural chromosome rearrangements in POC sample

Maternal Cell Contamination Study

Test for Maternal Cell Contamination (MCC) in Prenatal Samples

MD - 17q21.31 microduplication syndrome - MLPA

MD - 1p36 deletion Syndrome (MLPA)

1p36 deletion syndrome is a contiguous gene deletion disorder caused by loss of genetic material at the terminal end of the short arm of chromosome 1 (1p36). MLPA (Multiplex Ligation-dependent Probe Amplification) is a targeted method used to detect such deletions with high resolution.

MD - 22q11.2 microduplication syndrome - MLPA

MD - 2p16.1-p15 microdeletion syndrome (MLPA)

MD - 2q23.1 microdeletion/microduplication syndrome- MLPA

MD - 3q29 microdeletion/microduplication syndrome - MLPA

MD - 9q22.3 microdeletion syndrome - MLPA

MD - Angelman syndrome - MLPA

MD - Cri-du-Chat syndrome - MLPA

MD - DiGeorge syndrome - MLPA

MD - DiGeorge syndrome-2 - MLPA

MD - Distal 22q11.2 deletion syndrome - MLPA

Distal 22q11.2 deletion syndrome is a rare chromosomal disorder caused by a deletion on the long arm of chromosome 22, outside the DiGeorge critical region. It presents with variable developmental, cardiac, and skeletal features.

MD - Glass syndrome (MLPA)