Referral criteria

Familial cancer

Any individual with a relevant personal/family history of cancer which suggests they may have an inherited predisposition to cancer – national referral guidelines can be found at eviQ.

We can no longer accept referrals for unaffected women with an average or slightly above average risk of breast/ovarian cancer:

The iPrevent tool is a validated breast cancer risk assessment and risk management support tool that can help assess a woman’s breast cancer risk taking into account personal and family history risk factors. Visit iPrevent.

Please include oncologist's correspondence, imaging, histopathology,  and endoscopy results

Familial neurological and muscle disorders

This may include individuals with a personal/family history of myotonic dystrophy, muscular dystrophy, ataxia, leukodystrophy, spinal muscular atrophy, dystonia, periodic paralysis, congenital myasthenic syndromes, hereditary neuropathy, and early onset dementia/parkinsonism.

Please include neurologist's, or specialist correspondence, pathology results, imaging, nerve conduction studies, and electromyography reports.

Familial cardiac conditions

This may include individuals with a personal/family history of:

• Idiopathic hypertrophic cardiomyopathy (HCM)
• Long QT syndrome
• Brugada syndrome
• Arrhythmogenic right ventricular cardiomyopathy (ARVC)
• Left ventricular non-compaction (LVNC)
• Dilated cardiomyopathy (DCM)
• Catecholaminergic polymorphic ventricular tachycardia (CPVT)
• History of sudden unexplained death in a young relative

Please include cardiologist's correspondence, medications list and previous ECGs, Holter monitoring, Echocardiogram, Cardiac MRI, and/or other cardiac investigation reports.

Familial renal conditions

This may include individuals with a personal/family history of:

• Advanced kidney disease in young adults, otherwise not explained
• Alport's disease
• Atypical haemolytic uraemic syndrome (AHUS)
• C3 glomerulopathies
• Dense deposit disease (DDD)
• Bartter syndrome
• Fabry disease
• Familial hypocalciuric hypercalcaemia (FHH)
• Family history of kidney disease
• Gitelman syndrome
• Hereditary nephritis
• Medullary cystic kidney disease (MCKD)
• Polycystic kidney disease (ADPKD)
• Primary hyperoxaluria (PH)
• Thin basement membrane disease (TBMD)
• Tubulointerstitial kidney disease (ADTKD)
• Uromodulin kidney disease (UMOD)

Please include nephrologist's correspondence, and renal function, urine ACR, and microscopy, renal tract imaging, and histopathology results (if biopsy done previously).

For FHH, please include serum and urine calcium, and creatinine levels.

For Gitelman and Bartter syndrome, please include renal function, serum and urine electrolytes.

For primary hyperoxaluria, please include urine oxalate level, renal function, renal stone analysis and/or imaging results

General genetic condition

This may include undiagnosed intellectual or developmental disability, infants with birth malformations or dysmorphisms, skeletal and connective tissue disorders and suspected inherited disorders of the senses (hearing and vision).

MODY - Endocrinologist's correspondence, medications list, BGL, OGTT, HBA1C, autoantibodies, and C peptide levels

Hearing and vision - assessment reports from audiologist and optometrist/ophthalmologist.

Intellectual disability/ASD - paediatrician's correspondence, and formal diagnostic assessment report for ID/ASD.

Patients who already have a genetic or chromosomal diagnosis

We can provide genetic counselling, confirmatory testing where appropriate/feasible and appropriate screening recommendations.