Test Directory

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

MD - NF1 microdeletion syndrome - MLPA

MD - Phelan-McDermid syndrome - MLPA

MLPA is used to detect small deletions or duplications in specific genes. It provides reliable, targeted copy‑number analysis that complements sequencing methods.

MD - Potocki-Lupski syndrome - MLPA

MD - Prader-Willi syndrome - MLPA

MD - Rett syndrome - MLPA

MD - Rubinstein-Taybi syndrome - MLPA

MD - Smith-Magenis syndrome - MLPA

MD - Witteveen-Kolk / 15q24 microdeletion syndrome - MLPA

15q24 microdeletion syndrome is a rare genetic disorder caused by the deletion of a segment on the long arm of chromosome 15 (region q24), leading to developmental delays, intellectual disability, and distinctive physical features.

MD - Wolf-Hirschhorn syndrome - MLPA

Rapid Aneuploidy Test - Chr. 13, 18, 21, X, Y (PCR-CE)

Rapid Prenatal Testing for common aneuploidies; Trisomy 13 (Patau syndrome) Trisomy 18 (Edward syndrome) Trisomy 21 (Down syndrome) Triploidy Turner syndrome Klinefelter syndrome

Russell-Silver Syndrome Methylation-Specific MLPA

RSS Methylation-Specific MLPA is a molecular test used to detect copy number variants or methylation abnormalities associated with Russell-Silver syndrome (RSS)

Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS)

BWS: Maternal hypomethylation at ICR2 (KCNQ1OT1), hypermethylation at maternal ICR1 (H19), copy number variants, segmental mosaic UPD11pat, and maternally-inherited variants of CDKN1C. SRS: Paternal methylation at ICR1, CNVs simulating maternalisation of ICR1, UPD7mat, other rare imprinting anomalies, and diverse CNVs.