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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)
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
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All correspondence must be attached to referral
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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