Test Directory
Browse our comprehensive catalog of genetic tests
Familial Variant Testing
Targeted genetic testing focuses on analyzing a specific genetic variant already identified in a patient or family member, and is most often used for cascade testing of at‑risk relatives, carrier testing to assess reproductive risk, confirmatory testing to validate a known finding, and mosaic variant analysis when partial variant presence is suspected.
Rare-DiseasesHaemophilia A (Intron 22 & I Inversion reflex to Sequencing)
Detection of the common F8 intron 22 and intron 1 inversions, the most frequent pathogenic rearrangements causing severe Haemophilia A. Testing is performed using PCR-based inversion analysis, with MLPA (Multiplex Ligation-dependent Probe Amplification) used to detect exon-level deletions and duplications within the F8 gene. This assay assists in the molecular diagnosis of Haemophilia A and carrier testing in at-risk individuals.
Rare-DiseasesDifferences in Sex Development (DSD)
Androgen insensitivity syndrome, Congenital adrenal hyperplasia, Congenital adrenal hypoplasia, 5-alpha reductase deficiency, cytogenomic abnormalities and other disorders associated with a DSD NGS panel
Reproductive GeneticsExpanded Carrier Screening – Premium 620
Our ECS Premium 620 is a comprehensive expanded carrier screening panel that analyses 620 genes associated with a wide spectrum of autosomal recessive and X‑linked disorders, including cystic fibrosis, spinal muscular atrophy, fragile X syndrome, haemoglobinopathies, metabolic disorders, neuromuscular diseases, and many others. Carrier screening identifies individuals who carry one copy of a gene variant that, when inherited with another variant from the reproductive partner, could result in an affected child. This information empowers couples with reproductive knowledge, enabling informed family planning decisions, prenatal testing options, preimplantation genetic testing (PGT), and early intervention strategies. The ECS Premium 620 panel is suitable for individuals planning a family, those with a family history of genetic disorders, or those undergoing assisted reproductive technologies (ART). All variants are interpreted according to ACMG/AMP guidelines, and genetic counselling is recommended to discuss results and reproductive risks.
Reproductive Genetics