Monogenic disorder

A monogenic (single-gene) disorder is a health condition caused by a pathogenic variant in one specific gene, rather than by a chromosome number or structural change. Examples relevant to Indian families include beta-thalassaemia, sickle-cell disease, spinal muscular atrophy and Duchenne muscular dystrophy. Monogenic disorders can be inherited in different patterns — autosomal recessive, autosomal dominant or X-linked — which affects the chance of a child being affected, being an unaffected carrier, or being unaffected altogether. Couples with a known family history of a monogenic disorder, or identified as carriers through screening, can be referred for genetic counselling to understand their reproductive options, which may include prenatal testing in an ongoing pregnancy or PGT-M during IVF for some conditions. Not every monogenic disorder can be tested for by PGT-M, and availability depends on whether the family's specific disease-causing variant has been identified.

Also known as: single-gene disorder, genetic disorder

Last reviewed: 9 September 2026. Written by the Antega Editorial Team. General information only — always follow the advice of your own clinic, doctor or pharmacist.