Test Directory

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)

MD - Koolen-de Vries syndrome - MLPA

MD - Langer-Giedion syndrome - MLPA

MD - Lissencephaly-1 - MLPA

MD - MECP2 duplication syndrome - MLPA

MD - Miller-Dieker syndrome - MLPA