Sibling testing

As Gaucher disease is passed down in families, if one person has the disease then it is very likely that other family members will have the faulty gene. It is very important that brothers and sisters (siblings) of someone with Gaucher disease are tested in case they are also affected. This testing is available in specialist clinics and is often referred to as ‘family screening’ or ‘sibling testing’

Prediction of disease severity in a child is easier when parents already have a child with Gaucher disease as there is a considerable degree of concordance between siblings. Occasionally the degree of disease manifestation is completely different between siblings, but this is less common. Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.

If there are no children with Gaucher disease in the family, the genetic expert relies on the genotype of the parents which can provide some useful information. For example, if both parents are heterozygous for the N370S mutation, then they can be reassured that the future child will not have neuronopathic disease. Grabowski GA, Petsko GA, Kolodny EH. Chapter 146: Gaucher disease. Valle D, Beaudet AL, Vogelstein B, et al, eds. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw Hill; 2013. Accessed July 6, 2015.

Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4): 657-689.

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