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DURING COVID-19 THE INFORMATION CONTAINED ON THESE PAGES MAY NOT BE ACCURATE. PLEASE CHECK WITH THE HEALTH FACILITY FOR CURRENCY.

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)

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