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Genetics Outpatient Clinics

Offers a consultative diagnostic and genetic counselling service to individuals diagnosed with, suspected to have, or at risk of, a genetic condition in the Nepean Blue Mountains Local Health District. We provide an Outpatient service for Obstetric, Paediatric and Adult patients.

Location and Contact

Facility: Nepean Hospital

Address: W&CH Outpatients L3, Sth Block & Medical Outpatients L1, West Block

Phone: (02) 4734 3362

Fax: (02) 4734 4472

Email: NBMLHD-Genetics@health.nsw.gov.au

Referral Criteria

We accept referrals for patients regarding a wide variety of genetic conditions, including but not limited to:

• Pregnancy concern
  • Fetal anomalies or genetic condition diagnosed in pregnancy
  • Increased risk due to personal or family history of genetic/inherited condition
• Pregnancy planning concern increased genetic risk
  • Personal or family history of Chromosomal conditions or genetic/inherited syndromes
  • Increased risk couple identified following carrier screening
• Personal history of a genetic/inherited condition
  • Intellectual disability and/or dysmorphic features and/or congenital anomalies with suspected syndrome diagnosis
  • Clinical features suspected of genetic/inherited syndrome diagnosis
• Family History of genetic / inherited conditions
  • Family history of intellectual disability, congenital anomaly, still birth, diagnosed genetic condition
• Approval for: Paediatrician ordered Genomic Testing (under MBS)
  • Follow the NSW Health education resource for paediatricians regarding genomic sequencing in childhood for guidance before contacting us – https://www.genetics.edu.au/health-professionals/genomics-1/intellectual-disability-genomic-testing

Before referring to our clinic please refer to our referral criteria document.

How to Refer

Referral Form

Referral Requirements and Pre Diagnosis

• All referrals need to be triaged to determine if genetics consultation is clinically indicated and helpful. Please refer to referral criteria to assist your referral
• All baseline investigations must be completed and attached to referral
• All correspondence must be attached to referral
• All family history information and results if available – please prompt patient to obtain family test results

Clinic Days

Genetics Clinic	Day(s) of Clinic
Drs Goodwin, Sinnerbrink, Enriquez & Bakshi	Monday - Friday Weekly

 

 

 

Monday, 6 September 2021 3:08:55 PM