Genetics

Genetics



GENETICS

Ampath Genetics is based at the National Reference Laboratory (NRL) in Centurion, Gauteng. We offer an extensive in-house complement of clinical and laboratory genetic services. The Ampath Genetics Laboratory is ISO 15189 and SANAS accredited, participates in several external quality assessments and is an HPCSA-approved training facility for medical scientists and technologists.

Ampath Genetics is comprised of skilled and experienced HPCSA-registered medical scientists, medical technologists, clinical geneticists and genetic counsellors.

The department is divided into two areas, clinical genetics and non-clinical genetics, where innovative techniques are utilised to assist in clinical diagnostics as well as in human identification and forensics, and this is a rapidly growing field.

The Ampath Genetics Laboratory offers a comprehensive range of genetic techniques, which allow interrogation of the genome from whole chromosomes down to single nucleotides of DNA. These techniques make use of advanced genetic technologies, including next-generation sequencing (NGS). Both constitutional (germline) and somatic (tumour) diagnostic testing are available.

Ampath Genetics offers a comprehensive range of laboratory and clinical services. These include tests that can be used for screening, diagnostic, predictive, carrier, and prognostic purposes. We offer testing related to congenital abnormalities/ developmental disorders, inherited cancer syndromes, reproductive genetics (non-invasive prenatal testing - NIPT), products of conception and prenatal diagnosis), paternity testing, pharmacogenomics and haematological/solid tumour testing. We also offer a consultative clinical and counselling service.

TEST CATEGORY

DESCRIPTION

Diagnostic testing

Testing to confirm or exclude a genetic condition in a symptomatic individual

Carrier testing

Testing performed on an individual without signs or symptoms, to find out whether he or she carries a genetic variant for a specific recessive genetic condition

Predictive testing

Testing an asymptomatic individual, who is at high risk  for a specific genetic condition, because of his family history

Cancer genetic testing

Testing an individual for variants in inherited cancer genes, or testing for genetic variants in solid tumours or haematological malignancies to guide management

Pharmacogenetic testing

Testing an individual to determine the efficacy of specific drugs or whether he/she is susceptible for adverse drug reactions 

Prenatal testing

Testing performed during pregnancy to determine whether the baby will be born with a specific genetic condition or birth defect

Genetic screening

Testing offered to the general population or specific ethnic groups, and not just to high-risk individuals or families

Relationship testing

Testing to confirm paternity or family relationships

Forensic genetic testing

Testing to assist with victim identification



GENETIC COUNSELLING AND CLINICAL GENETICS

Clinical Genetics is the medical specialty that provides a diagnostic service and genetic counselling for individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any system and any age group and include:

  • Chromosomal abnormalities, which cause birth defects, intellectual disability and/or reproductive problems.
  • Single gene disorders such as cystic fibrosis, Fragile X syndrome, Huntington's disease and Marfan syndrome.
  • Familial cancer and cancer-prone syndromes such as inherited breast or colorectal cancer.
  • Birth defects with a genetic component such as neural tube defects and cleft lip and palate.

Individuals with unexplained birth defects and/or learning disabilities are also referred and investigated for genetic factors. The scope of clinical genetic services thus ranges from pre-pregnancy services (risk assessment and testing, prenatal testing), postnatal and childhood disorders to adult onset conditions (neurological, cancers etc.).

"Genetic counselling is a communication process, which aims to help individuals, couples and families understand and adapt to the medical, psychological, familial and reproductive implications of the genetic contribution to specific health conditions."

The genetic counselling process integrates the following:

INTERPRETATION

EDUCATION

COUNSELLING

SUPPORT

Of family and medical histories to assess the chance of disease occurrence or recurrence

About the natural history of the condition, inheritance pattern, testing, management, prevention, support resources and research

To promote informed choices in view of risk assessment, family goals, ethical and religious values

Encourage the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder

 

Facilitate referrals to specialists or support groups



In addition to a range of diagnostic tests and described above, our Counselling/Clinical section offers the following services to our clients, doctors and patients:

  • On referral, we offer a clinic service for clinical genetic assessment and/or genetic counselling for patients.
  • Telephonic discussion with colleagues/referring doctors regarding constitutional genetic disorders/ suspected genetic disorders, appropriate testing and interpretation of results.
  • Facilitation of certain genetic testing overseas, for tests not available locally, and only following direct consultation with the referring specialist clinician. Informed consent for any genetic testing is essential. 
  • Clinical Geneticists and Genetic Counsellors are directly involved in the analysis and reporting of our constitutional diagnostic tests.

We see patients at our Centurion (Gauteng) and Ballito (KZN) Care Centres, or via online video platforms where appropriate, and all by appointment only.

Dr Janin Alant

MBChB (Pret), PG Dip Genomic Medicine (UK), FC Path (Haem), MMed (Haem)

Janin was appointed as the managing pathologist of the Ampath Genetics Laboratory in 2021. She is currently pursuing a part-time Master’s Degree in Genomic Medicine through the University of Cambridge (UK). Janin has a special interest in translational genomics, precision oncology and pharmacogenomics.

Contact Janin on 012 678 0645 or via email at alantj@ampath.co.za.


Dr Lindsay Lambie

MBBCh, FCPaed (SA), Cert (Medical Genetics) (SA), MSc (Med) Genetic Counselling

Lindsay is a Paediatrician and Clinical Geneticist. She worked at the NHLS and also at the University of the Witwatersrand Human Genetics Department as a lecturer and consultant Clinical Geneticist for 10 years, before joining Ampath in 2018. Lindsay assists colleagues with choices around genetic testing and differential diagnosis for genetic disorders. She provides clinical assessments and genetic counselling services. Lindsay has a particular interest in paediatric genetics and rare diseases, reproductive genetics and neurodevelopmental disorders.

Contact Lindsay on 012 678 0645 or via email at lambiel@ampath.co.za.


Dr Nicole Rossum

MBChB (UFS), DA (CMSA), FC Path (Haem), MMed (Haem)

Nicole joined the Ampath Genetics Department in 2023 and is in the process of furthering her studies in the field of precision oncology.

She has a special interest in solid tumour genomics, precision oncology and HLA typing.

Contact Nicole on 012 678 0532 or via email at rossumn@ampath.co.za.


Dr Petri Swanepoel

MBChB (Pret), FC Path (Haem), MMed (Haem)

Dr Swanepoel is a qualified Haematologist, currently employed in the Genetics Department at Ampath Laboratories. Dr Swanepoel gained extensive experience in autoimmune diseases, allergology, infectious serology and primary immunodeficiency syndromes during her work in Immunology, but most importantly implemented and managed the HLA tissue typing and antibody screening section in cellular immunology. She is actively involved in the immunogenetics of solid organ transplants. Dr Swanepoel has a wide area of interests, but her foremost passion is haematological malignancies, molecular genetics with a recent interest in transplant medicine, especially tissue typing performed by next generation sequencing.

Contact Petri on 012 678 0613 or via email at swanepoelp@ampath.co.za.


Sarah Walters

MSc (Med) Genetic Counselling

Sarah started her career as a medical scientist, qualifying in 1994. She worked in the cytogenetics laboratory at the NHLS, Wits, until her passion for connecting with people affected by genetic conditions led to completing her Master’s degree as a genetic counsellor. Since then, Sarah has worked as a genetic counsellor at the NHLS, as well as for the Southern African Inherited Disorders Association (SAIDA) as a nurse trainer, where she trained over 350 nurses and doctors working in primary healthcare clinics in genetics and basic counselling skills. She worked in private practice for a while before joining Ampath’s genetics team in 2013 as their first genetic counsellor.

Sarah’s special interests include cystic fibrosis, primary immune deficiencies and adult-onset conditions such as inherited predisposition to cancers and Huntington’s disease. She keeps her scientific skills sharpened by assisting with result interpretation in the cytogenetic and cytomolecular fields.

Contact Sarah on 012 678 0645 or via email at walterss@ampath.co.za.


Julie Lampret

MSc (Med) Genetic Counselling (WITS), Cert (Social Work) (UNISA)

Julie is a genetic counsellor who has a deep compassion for individuals, couples, and families facing a new diagnosis, helping them work through the trauma and/or loss as well as treatments available for inherited cancers and genetic conditions. It is her passion to walk alongside these families and offer support. Julie qualified and worked at the NHLS, Wits University as a genetic counsellor, where she was also involved in lecturing medical students and training nurses. She was employed as a senior researcher for the ongoing projects and offered basic counselling skills courses to support groups. She subsequently worked in the private sector in Johannesburg and KwaZulu-Natal before moving abroad where she worked for Children’s Health Ireland in a children’s hospital in Dublin. Julie has a broad range of experience and has worked extensively in prenatal, cancer and cardiac genetics. She is currently located in Ballito and is at present, the only genetic counsellor in KwaZulu-Natal.

Contact Julie on 012 678 0645 or via email at lampretj@ampath.co.za.


Julie Malan

MSc (Med) Genetic Counselling

Julie is a genetic counsellor who qualified in 1999. Julie worked in the Cytogenetics and FISH laboratory at Genepath for a year. In 2003 Julie registered as a private genetic counsellor and, between 2003 and 2007, worked as a consultant for Genecare. During this time she also joined the Familial Cancer Centre at Femina, where she counselled patients in a multi-disciplinary set-up that included a psychologist and gynae-oncologist. In 2006, Julie’s son was born and was diagnosed with Haemophilia A soon after his birth. Julie joined the South African Haemophilia Foundation (SAHF), where she became involved in the administration of the Foundation as in counselling and support to the families of newly-diagnosed Haemophilia patients. Julie also participated in organising Parents-empowering-parents (PEP) workshops for parents of boys with haemophilia. In September 2019 Julie joined Ampath’s genetics team as a genetic counsellor. She has a special interest in cancer genetics, retinal disorders and haemophilia. Julie is still involved in both the Familial Cancer Centre and the SAHF where she has received funding from the World Federation of Haemophilia

(WFH) to provide a genetic counselling outreach project through tele-medicine.

Contact Julie on 012 678 0645 or via email at malanj@ampath.co.za.

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ADDITIONAL RESOURCES

Ampath Genetics offers a wide range of genetic testing for inherited and tumour related purposes. Please contact us for specific queries. Below are a few of examples of our current information material.


Genetic Counselling Leaflet - view

Fact Sheet for Array CGH - view

LabUpdate: Genetic testing for FMR1 disorders - view 

Test in focus: Genetic testing in Breast Cancer (BRCA1 and BRCA2 testing) - view

Fact Sheet: Genetic testing in Breast Cancer - view

AmpathChat 56: Laboratory Diagnosis of Cystic Fibrosis Update - view

AmpathChat 73: Detection of Familial Hypercholesterolaemia using Next Generation Sequencing (NGS) - view

LabUpdate 40: Introducing our new Pharmacogenomics PGX120 Panel - view

LabUpdate 37: Non-Invasive Prenatal Testing: An Update - view

AmpathChat 48: Expanded chromosome screening of products of conception (POCs) using next generation sequencing (NGS) technology - view

Testimonials

“Thank you so much for helping us navigate this journey! We really appreciate all your advice and your information.” - Kate (Genetic Clinic patient – March 2023)

 


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