Test Directory
Browse our comprehensive catalog of genetic tests
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.
Chromosome StudiesMD - 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.
Chromosome StudiesRussell-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)
Chromosome StudiesBardet-Biedl syndrome (25 Genes)
Bardet‑Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterised by multisystem involvement, most notably affecting vision and kidney function, with possible impact on the heart, liver, and digestive system. Common clinical features include obesity, intellectual disability, hypogonadism, and polydactyly. The estimated incidence is approximately 1 in 100,000. To date, mutations in around 25 genes have been identified, with BBS1 and BBS10 being the most frequent, accounting for ~51% and ~20% of cases, respectively.
CiliopathiesBeckwith-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.
CytogeneticsChromosomal Microarray (CMA) - 750K SNP array - Peripheral Blood
The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.
CytogeneticsChromosomal Microarray (CMA) - 750K SNP array - Prenatal
The Affymetrix CytoScan 750K Array assay, performed with genomic DNA extraction, is used to detect small copy number gains and losses across the entire genome. Genomic imbalances are reported when deletions exceed 200 kb or duplications exceed 500 kb, unless the affected region is clearly recognized as a benign copy number polymorphism in multiple independent studies. Regions of homozygosity (ROH) are reported when they are larger than 10 Mb. Deletions smaller than 200 kb and duplications smaller than 500 kb may not be reported unless they involve genomic regions with established clinical significance.
Cytogenetics