Welcome to SEALS Genetics Laboratory

The SEALS Genetics Laboratory is one of the major Australian centres for genetic diagnostics, providing a comprehensive genome diagnostic service in a consultative pathology context.  SEALS Genetics draws its expertise from 45 scientific, clinical and research staff in the fields of molecular genetics, cytogenetics, genetic biochemistry, bioinformatics and medical genomics.  Services are provided to the major hospitals in the Sydney Children's Hospital Network, the South Eastern Sydney and Illawarra Shoalhaven Local Health Districts as well as to public and private health facilities throughout NSW and State and nationally. Pathologists from SEALS Genetics also provide supervision for the medical genomics facility of Genome.One Pty Ltd and from 2017 part-supervision of the ACT Pathology Genetics laboratory. 
 
The laboratory is recognised as a training site by both the HGSA and RCPA for advanced training in laboratory genetics for both scientific and medical personnel. We also frequently host international specialist practitioners who wish to gain experience in specific aspects of genetic and genomic testing.

SEALS Genetics Laboratory has held continuous accreditation from NATA/RCPA since 1988, providing testing compliant with the ISO 15189 and ISO 9001 Standards and NPAAC Requirements. We offer testing for over 20 different disorders.
 
Our main areas of interest are:
• Genomic basis of human disease
• Prenatal diagnosis
• Inherited neuromuscular disorders
• Inherited and somatic cancer diagnostics
• Development delay and intellectual disability
• Craniofacial disorders
• Inherited and somatic haematological disorders
• Community genetics

Laboratory Contact Details

For all laboratory enquiries, including results enquiries, please call the SEALS Call Centre on 1800 0 73257.

The Departmental email address is NSWPATH-SealsGenetics@health.nsw.gov.au

The Departmental phone number is (+612) 9382 9169 and the fax number is (+612) 9382 9157.

To contact a specific member of the senior laboratory staff please contact the Randwick Hospitals Campus switchboard on (+612) 9382 2222.

 
Operating hours
Laboratory: Monday – Friday 8.00am – 5.30pm (0800-1730)
Samples:  may be received 24 hours a day 7 days a week via SEALS Central Specimen Reception

Sample Types and Requirements
  • Blood samples:
    • For Karyotyping/Cytogenetics/FISH:
      • Adults 5-10 mL in a Li-heparin tube;
      • Neonates at least 2 mL is required, in a Li-heparin tube.
    • For Molecular Genetics/Microarrays:
      • Adults 5-10 mL in an EDTA tube;
      • Neonates at least 2 mL is required, in an EDTA tube.
  • Amniotic fluid:
    • For pregnancies between 15-22 weeks gestation:
      • 3x10 mL samples in a Falcon/plain tube.
    • For pregnancies outside of these gestational ages:
      • Please contact the laboratory as requirements may vary.
    • For complex molecular genetics studies:
      • Please contact the laboratory for consultation to plan the investigations required.
  • Chorionic villus samples:
    • For cytogenetic diagnosis only:
      • At least 15 mg (and preferably greater than 20 mg) of chorionic villus sample is required.
      • The CVS sample must be provided in sterile transport medium, obtainable from the laboratory (02) 9382 9169.
    • For combined cytogenetic/molecular genetic testing:
      • At least 25 mg chorionic villus sample is required
  • Products of conception:
    • Samples should be provided in a sterile culture or transport medium, obtainable from the laboratory (02) 9382 9169.
    • Skin, cartilage, placenta and other fetal tissues: Please contact the laboratory before sending.
  • Bone marrow samples:
    • Bone marrow aspirates must be collected in transport medium, obtainable from the laboratory (02) 9382 9169.
    • Samples should be sent directly to the laboratory within 24 hours of collection.
  • Extracted DNA for single amplicon studies (eg. MLPA, predictive tests):
    • A minimum of 2 ug DNA at a concentration of no less than 100 ng/uL (SI equivalent: 100 ug/L). At this concentration, the minimum volume is 20 uL.
  • Extracted DNA for whole gene re-sequencing (eg. BRC1 & BRCA2, Dystrophin):
    • A minimum of 10 ug DNA concentration of no less than 100 ng/uL (SI equivalent: 100 ug/L) At this concentration, the minimum volume is 100 uL.

With the sole exception of routine aneuploidy screening by qfPCR, molecular prenatal testing will only be performed after consultation with the laboratory. Copies of consent forms may need to be provided prior to testing for some predictive, prenatal or genomics tests.


Conditions and Shipment

Please label the sample tube(s) with a minimum of two (2), and ideally three (3), unique identifiers (e.g. name, date of birth, and either address or Medical Record Number) on each tube. In the interest of patient safety, we are unable to accept improperly or inadequately labelled samples.

For some indications, to further minimise the risk of mis-identification, duplicate blood samples should be collected, at an interval of greater than 20 minutes apart. Where duplicate samples are collected, every effort should be made to ensure the two samples are collected and processed independently of each other.

Ship all patient samples at room temperature. Do not freeze any sample! Do not place any sample directly on ice or in direct contact with ice!

Blood samples should ordinarily arrive in our lab within 3 days after collection. All other samples must be provided on the same day, or by overnight courier.

Contact the laboratory if you are uncertain as to the amount of DNA required.

Invoices

Important: for MBS tests the Medicare Assignment information must be completed on the SEALS referral form. For non-MBS rebateable tests an invoice will be sent either to the institution, or the individual nominated by the referrer. Some tests may not proceed until a patient has provided a signed financial consent for payment.

 
Other general laboratory information

Please contact the laboratory for additional information such as Turn-around Times, non-standard consent forms, and lists of factors that can interfere with test results.

 

SEALS GENETICS LABORATORY CONTACTS:

Departmental contacts:
Tel: (+612) 9382 9169; Fax: (+612) 9382 9157
Email: NSWPATH-SealsGenetics@health.nsw.gov.au
 
Clinical Director
Dr Michael Buckley
Phone: (+612) 9382 9125
Email: michael.buckley@health.nsw.gov.au
 
Staff Specialists:
Dr Scott Mead
Phone: (+612) 9382 9163
Email: scott.mead@health.nsw.gov.au
 
Dr Chiyan Lau
Phone: (+612) 9382 9164
 
A/Prof Edwin Kirk
Phone: (+612) 9382 9164
Email: edwin.kirk@health.nsw.gov.au
 
 
Principal Scientists:
 Ms Glenda Mullan
Phone: (+612) 9382 9149
Email: glenda.mullan@health.nsw.gov.au
 
Ms Louise Carey
Phone: (+612) 9382 9149
Email: louise.carey@health.nsw.gov.au

 
Senior Scientists/Team Leaders
Ms Pauline Dalzell
Phone: (+612) 9382 9159
Email: pauline.dalzell@health.nsw.gov.au

Mr Alex Kovacic
Phone: (+612) 9382 9168
Email: alex.kovacic@health.nsw.gov.au
 
Mr William Lo
Phone: (+612) 9382 9165
Email: william.lo@health.nsw.gov.au
 
Mr Christopher Lucas
Phone: (+612) 9382 9169
Email: christopher.lucas@health.nsw.gov.au

Ms Toni Saville
Phone: (+612) 9382 9191
Email: toni.saville@sesiahs.health.nsw.gov.au
 
Ms Corrina Cliffe
Phone: (+612) 9382 9114
Email:corrina.cliffe@health.nsw.gov.au
 

Staff Profiles

Dr Michael Buckley MBChB, BHB, PhD, MHGSA (Cytogenetics), FHGSA (Molecular Genetics), FRCPA (Genetics), FRCPath (UK) (Genetics), FFSc
Clinical Director and Senior Staff Specialist Genetic Pathologist
Vice-President, Human Genetics Society of Australasia

Dr Michael Buckley is a Genetic Pathologist with Fellowships in Genetics from the Human Genetics Society of Australia, the Royal College of Pathologists of Australasia and the Royal College of Pathologists in the United Kingdom. He is the supervising pathologist of Genome.One Pty Ltd at the Kinghorn Centre for Clinical Genomics.

Dr Buckley's research interest is principally in disease gene identification in paediatric congenital anomalies; with major publications concerning the identification of the SP110 gene as the cause of a form of severe combined immunodeficiency, the SCL29A3 gene in pigmented hypertrichosis with insulin dependent diabetes mellitus, and the FREM1 gene in metopic craniosynostosis.  Between 2008 and 2011 he was the recipient of a Marie Curie International Incoming Fellowship for a project directed at the implementation of massively parallel sequencing for disease gene identification in diagnostics and in research, a project which is ongoing with the development of a Centre for Medical Genomics within the SEALS Genetic Laboratory. Current research funding includes support for Centre of Research Excellence for Neurocognitive Disorders. Dr Buckley is actively involved in specialist training having held positions as Registrar of the RCPA Board of Censors, RCPA Chief Examiner in Genetics, HGSA Chief Examiner in Molecular Genetics, and is currently the vice-president of the Human Genetics Society of Australasia.
 
Dr Scott Mead MBChB, BHB, PhD, FRCPA (Genetics)
Staff Specialist Genetic Pathologist
Conjoint Senior Lecturer, St Vincent’s Clinical School, UNSW
 
Dr Scott Mead is a medical graduate of the University of Auckland (New Zealand), where he also gained a PhD in Molecular Medicine. He obtained fellowship of the RCPA in 2011, following genetic pathology training undertaken at the University of Otago (Christchurch, NZ) and Royal Prince Alfred Hospital (Sydney).
 
Dr Mead is currently a Conjoint Senior Lecturer at the School of Medical Sciences, UNSW and is a member of the RCPA Genetics Advisory Committee. He is actively involved in genetic pathology registrar placement at SEALS Genetics.
 
Scott has a long-standing interest in cancer genetics and has been involved in cancer research initiatives in Australia and overseas. This has included identifying translocation breakpoints in neuroblastoma patients (Institute of Child Health, Great Ormond Street Hospital, UK), modelling acute myeloid leukaemia in zebrafish (University of Auckland, NZ) and most recently characterising mutations in pancreatic cancer as part of the Australian Pancreatic Cancer Initiative (APGI) and International Cancer Genome Consortium (ICGC). This work (Garvan Institute of Medical Research, Sydney) has led to a clinical trial (IMPACT) looking at stratifying pancreatic cancer patients to different treatment options based on the mutation profile of their tumour. This reflects Dr Mead’s primary interest in genetic diagnostics, which is the clinical application of massively parallel sequencing (NGS) technologies.
 
Dr Chiyan Lau MB, BS, PhD, FRCPA (Genetics)
Staff Specialist Genetic Pathologist
 
Dr Chiyan Lau is a genetic pathologist who has worked at ACT Pathology and the Therapeutic Goods Administration in Canberra for the past 4 years. In the SEALS Genetics laboratory Chiyan has the lead role for the laboratory's program in microarray analysis. His clinical interests include constitutional genetics and genomics, and the use of microarray technology for genetic diagnosis.
 
A/Prof Edwin Kirk MB, BS, PhD, FRACP, FRCPA (Genetics)
Clinical Geneticist, Sydney Children's Hospital Network
Conjoint Associate Professor, School of Women's and Children's Health, UNSW
 
Dr Edwin Kirk is a clinical geneticist who has worked at Sydney Children's Hospital for more than 15 years. In the SEALS Genetics laboratory, Edwin has the lead role for the laboratory's program in community genetics. His clinical interests include cardiac genetics and inborn errors of metabolism. His research focuses on the causes of congenital heart disease (CHD) and the needs of families affected by CHD. Recently, he has become involved in several projects using next generation sequencing to identify the causes of various Medelian disorders.
 
PRINCIPAL SCIENTISTS
Ms Glenda Mullan BAppSc, MSc, FHGSA (Molecular Genetics)
Principal Scientist, Molecular Genetics 

Glenda is a Principal Hospital Scientist in Genetics with a Fellowship in Molecular Genetics from the Human Genetics Society of Australia. Glenda has a Master of Science by research into novel technologies for the diagnosis of genetic causes of intellectual disabilities (UNSW School of Medicine).

Glenda has over 30 years working experience in a diagnostic genetics laboratory. She is actively involved on the organizing committees of special interest groups within the Human Genetics Society of Australia, and she is a technical assessor in Genetics for the National Association of Testing Authorities, Australia.

Glenda’s principal interests are in cancer genetics and the implementation of novel methods for the diagnosis and clinical interpretation of genetic variants.
 
Ms Louise Carey BAppSc, FHGSA (Cytogenetics), FFSc (Medical Genomics)
Principal Scientist, Cytogenetics

Louise is a Principal Hospital Scientist in Genetics with a Fellowship from both the Human Genetics Society of Australasia and the Faculty of Science of the RCPA.

Louise has over 15 years working experience in a diagnostic genetics laboratory. She is actively involved on the organising committees of special interests groups within the Human Genetics Society of Australia, and is the technical assessor in Genetics for the National Association of Testing Authorities, Australia.

Louise's principal interests are in cytogenetics and the implemetation of novel methods for the diagnosis and clinical interpretation of cytogenetic and copy number varients. 

SENIOR SCIENTISTS/TEAM LEADERS
Ms Pauline Dalzell BAppSc, MHGSA (Cytogenetics)
Senior Scientist - Cytogenetics

Pauline Dalzell has attained a Membership in Cytogenetics from the Human Genetics Society of Australasia. She has more than 25 years experience in all areas of cytogenetics, with special interest in haematological oncology. Since 2009, Paulines focus and speciality has been establishment and continued oversight of the SEALS Genetics CGH microarray service, which was the first NSW public laboratory to offer prenatal microarray testing.

Pauline heads the postnatal cytogenetics section in SEALS Genetics and is also the departmental Quality Manager. She is a technical assessor in Cytogenetics/Molecular Cytogenetics for the National Association of Testing Authorities, Australia (NATA) and a visiting lecturer in Cytogenetics at The University of Technology, Sydney (UTS).
 
Mr Alex Kovacic PTC, PHC, BAppSc, MSc, MHGSA (Cytogenetics)
Scientist, Cytogenetics

Alex gained his Membership in Cytogenetics of the Human Genetic Society of Australasia in 1996, and his Master’s degree in Molecular Cytogenetics from the School of Medicine UNSW with a thesis, “Visualisation of Interphase Nuclei by FISH”.

Alex is the scientist in charge of the “Fluorescence in situ hybridisation“ (FISH) Laboratory. The FISH Laboratory provides various services including high volume specialised oncology-testing, prenatal and postnatal testing, CGH array follow-ups using a wide array of DNA probes.

He has over 32 year experience in the Cytogenetic field, with the last 24 years as the scientist in charge of the FISH lab. He has been a NATA external assessor since 2004 with expertise in Cytogenetics and Molecular Cytogenetics. In 2007, he was appointed to the “NSW Register of Congenital Conditions” a Ministerial Advisory Committee for the NSW Ministry of Health, representing NSW Cytogeneticists. He is also an advisory gatekeeper for the “Congenital Conditions” database for all NSW Cytogenetic and Molecular Genetic Laboratories in NSW.

Alex has a strong interest in laboratory automation, hardware and software development, web development and technology advances in the biological field.
 
Mr Christopher Lucas Bsc Dip Cytogenetics (Hons), MHGSA (Cytogenetics)
Senior Scientist, Cytogenetics

Christopher is a Senior Scientist in Cytogenetics with over 20 years’ experience. He studied Biochemistry/Genetics at the University of British Columbia (Vancouver, Canada) and has also attained a Diploma in Cytogenetics at the British Columbia Institute of Technology and Membership in Cytogenetics of the Human Genetics Society of Australasia.

Christopher heads the Prenatal Cytogenetics section at SEALS Genetics with current interest focused on molecular cytogenetic technologies.
 
Ms Toni Saville Assoc. Dip. Pathology, PTC, PTHC
Senior Technical Officer, Cytogenetics

Toni is a Senior Technical Officer and the Section Head of Prenatal Cytogenetics.

Toni’s primary interests are in fetal morphology and prenatal cytogenetics. She was a founding member of the Human Genetics Society of Australia with her work in the development of tissue culture methods for human amniocytes and prenatal cytogenetics. Toni’s research into the outcome of pregnancies with abnormalities in direct chorionic villus cultures led to the identification of trisomy rescue as a cause of uniparental disomy and Prader Willi syndrome. Most recently, Toni implemented molecular techniques for the diagnosis of genetic abnormalities in fetal demise.
 
Ms Corrina Cliffe BSc (Hons), MHGSA (Molecular Genetics)
Senior Scientist, Molecular Genetics

Corrina studied Biomedical Science at the University of Technology, Sydney, completed her Honours degree at UNSW and attained a Membership in Molecular Genetics of the Human Genetics Society of Australasia.

She has played a major role in developing the prenatal molecular diagnostic service for the rapid diagnosis of aneuploidy. She is currently involved in the development of a number of new assay technologies in molecular genetics and prenatal diagnostic testing of Mendelian disorders.

 

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