Relative of a patient with a common genetic disease: which screening (haemochromatosis, familial hypercholesterolaemia, polycystic kidney disease, Wilson's disease, haemoglobinopathies, cystic fibrosis)

Laboratory tests (adult relative)

• Transferrin saturation
• Serum ferritin
• Testing for the HFE C282Y mutation (adult relative; written consent, see the note on the prescriber)

Laboratory tests

• Lipid profile (LDL cholesterol)
• Lipoprotein(a) (child aged 5 years or over suspected of familial hypercholesterolaemia; not reimbursed in France)if needednon-French guidelineEAS proposes measuring Lp(a) in any child suspected of familial hypercholesterolaemia, not before 5 years ^[9].
• Testing for the familial mutation: by the specialist consultation, if it is known in the index case

Laboratory tests

• Serum creatinine with eGFR

Imaging

• Renal ultrasound (first-line screening test)

Laboratory tests (preferably coordinated by the reference centre)

• Caeruloplasmin
• Serum copper
• Exchangeable copper (calculation of REC; hospital laboratories)
• AST
• ALT

24-hour urine collection

• 24-hour urinary copper
• Testing for the familial ATP7B mutations: by the reference centre or the genetics consultation

Laboratory tests

• FBC with reticulocyte count
• Serum ferritin
• Haemoglobin electrophoresis (haemoglobin study)

• Refer to a genetic counselling consultation (parents, adult relatives, partner of a patient or carrier)
• Sweat test (asymptomatic minor sibling of a patient)if neededThe PNDS proposes the sweat test for asymptomatic minor siblings of a patient; negative if < 30 mmol/L ^[22].