Detect genetic mutations associated with glaucoma; precise diagnosis and management. Genelist (55): ACVR1, ADAMTS10, ASB10, ATOH7, BEST1, BMP4, CA4, CANT1,
Genelist (11): BTK, GH1, GHR, GHRHR, GHSR, HESX1, LHX3, LHX4, OTX2, POU1F1, PROP1
Genetic analysis for atypical hemolytic-uremic syndrome; targeted clinical intervention. Genelist (29): ADAMTS13, C3, CD46, CD59, CFB, CFD, CFH, CFHR1, CFHR2,
Genetic testing for hereditary hemochromatosis; diagnosis and management of iron overload disorders.
Pre-haematopoietic stem cell transplant for both donor and recipient. Post- haematopoietic stem cell transplant for the recipient. Pre-solid organ transplantation
Genetic test associated with ankylosing spondylitis and other autoimmune diseases.
Diagnosis of ichthyosis and disorders of cornification; genetic counseling and clinical care. Genelist (89): AAGAB, ABCA12, ABHD5, ALDH3A2, ALMS1, ALOX12B,
Genetic confirmation of congenital ichthyosis; diagnosis and prognosis. Genelist (13): ABCA12, ALOX12B, ALOXE3, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7,
Cell-free DNA test through maternal blood to screen for aneuploidy in the 24 chromosomes in addition to Sex chromosome aneuploidies