Test Directory

Differences 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

Expanded 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.

Haemolytic Disease of Foetus and Newborn (HDFN) - RhD, C, c, E, K, Fya

Holoprosencephaly (HPE) Holoprosencephaly (HPE) BXW11, PTCH1, SHH, SIX3, TGIF1, TRAPPC10 and ZIC2

RhD Genotyping