• Diagnostic Genetics Clinic
• Genetic Counsellor Clinic
• Prenatal Genetics Clinic
• Neurofibromatosis Clinic

Mandatory referral information

All Genetics referrals must include a consultant being referred to in RNSH outpatients. If unsure, please address to A/Prof Yemima Berman and Associates.

All referrals must include patients details, provision diagnosis and reason for referral, finding/treatment to date, how this affects the patient, significant medical history, list of medications and relevant social information. Please indicate preferred language if an interpreter is required.

Please clearly indicate if this referral relates to an ongoing pregnancy.

Please attach results of any investigations to the referral and ensure the patient brings hard copies to their appointment. This will help avoid unnecessary duplication of tests, additional appointments and delay.

Referrals with insufficient information will be returned to the referring doctor until further information is provided to the clinic.

Indications for referral:

Referrals for children will only be accepted from Paediatricians

Presenting complaint​	When to Refer
Developmental Delay/ Congenital anomalies	Anyone with a rare genetic or chromosomal diagnosis, congenital anomalies and/or significant developmental delay (eg mild ID).
Pregnancy concern	Pregnant women or their partners who are affected, or who have a family history of an inherited condition or foetal abnormality suggestive of an underlying genetic disorder.
Preconception concerns	Anyone with a personal and/or family history of a genetic or chromosomal condition who is seeking updated information, eg before starting their family.  Thalassaemia testing where FBE/HbEP has been performed in both partners and is not reassuring in at risk populations.  Appendix 1 ​
Predictive genetic testing	Predictive testing for inherited disorders in unaffected individuals with a family history.
Hypermobility/ Connective Tissue Disorder	Anyone with a personal history of the following red flag complications, or a family history of these in the presence of hypermobility (Beighton >4 in adults, >6 in children) Young onset of thoracic aortic  enlargement, vascular dissection or extensive varicosities Ectopia lentis Extensive widened atrophic scars  and poor would healing/ recurrent large hernias Severe scoliosis Personal/family history of organ rupture Recurrent pneumothoraces Further details including management. Appendix 2 ​
Neurofibromatosis	Adults and Children with confirmed or suspected Neurofibromatosis type 1, type 2, or schwannomatosis for diagnosis, management plan or complex management. Please note: Diagnostic imaging for palpable breast lumps in NF1 should be investigated locally as per the general population, with MMG +\- ultrasound followed by referral to a breast surgeon where needed for concerning lesions.

The RNSH Genetics Clinic is unable to provide a service for the following:

• Individuals with a personal and/or family history of Ehlers Danlos syndrome type 3 / hypermobility / joint laxity without red flags.  Appendix 2 ​
• Children/ adults with autism without intellectual disability, family history or unusual facial features- baseline investigations should be performed by the managing doctor.   Appendix 3
• Variants of uncertain significance on chromosomal microarray that have no gene content, or isolated loss of heterozygosity.
• Individuals who have a population risk of lower than 1 in 50 of being a carrier for a rare autosomal recessive disorder, where their partner is a known carrier of a rare autosomal recessive disorder.
• Pregnant women with a high risk due to advanced maternal age or first trimester screening investigations, who have not yet had a diagnostic test.
• Couples who have had recurrent miscarriages where the cause is NOT due to a chromosomal anomaly. Conventional karyotype should be performed by the managing doctor.
• Individuals who have had or are considering genetic testing of the MTHFR gene. Appendix 4
• Individuals who have had or are considering 'direct to consumer' genetic testing.
• Individuals who have had or are requesting genetic testing relating to paternity
• Consanguinity.   Appendix 5
• Teratogen exposure. Contact Mothersafe 93826539  for advice.   Appendix 6
• Individuals who are not residents of NSLHD. See Out of Area Referral page.

Please note: Patients can also be referred to a Genetics Specialist in private rooms, which usually have a significantly shorter waiting period. There will likely be an out of pocket cost for the consultation. See page 7 for contact details.

If your patient does not meet our referral criteria but you would like advice, or think they would benefit from a Genetics consultation please contact us on 94631727

Out of Area Referral

Check if the home address is within Northern Sydney Local Health District here 

RNSH consultant referral options:

The following Clinical Geneticists work at RNSH. Some have private rooms, which patients can be referred to and usually have a significantly shorter waiting period. From the rooms patients may still have access to the public system for testing if they fulfil relevant clinical / prioritisation criteria. There will likely be an out of pocket cost for the consultation at the private rooms.

Referral Criteria Appendices:

Appendix 1:Thalassaemia testing pathway
Appendix 2:​Hypermobility Spectrum Disorder Information
Appendix 3:Autism Information
Appendix 4: Centre for Genetics Education Fact Sheet on MTHFR ​
Appendix 5:Centre for Genetics Education Fact Sheet on Consanguinity 
Appendix 6:​​Teratogen exposure information