Information for health professionals
The following are reasons you may want to refer patients to a genetics clinic:
- Diagnostic assessment of infants or children with dysmorphic features or developmental delay
- Diagnostic assessment for adult-onset genetic disorders
- Diagnostic assessment for pregnancies in which there is a concern about fetal abnormalities
- Explanation and further information about a genetic diagnosis
- Discussion of the implications of a family history of a genetic condition, including familial cancer
- Information and genetic counselling concerning prenatal diagnosis
- Diagnostic, pre-conceptional or pre-natal tests for a genetic condition and reproductive options including pre-implantation genetic diagnosis (PGD)
- Pre-symptomatic/predictive genetic testing, which requires a referral to GHSNZ prior to testing
- Assistance in the diagnosis, clinical management of genetic disease and identification of preventable complications by early surveillance
- Advice about inheritance of genetic conditions, further information and genetic testing for those affected by or perceived to be at risk of genetic disorders in extended families
- Telephone enquiry service for doctors, midwives and other health professionals concerning genetic diseases
- Genetics education for professional and lay groups
Common referrals include (this is not an exhaustive list):
- Abnormal pre-natal scans or screening tests (e.g. amniocentesis with abnormal karyotype)
- Infants, children and adults with dysmorphic features and developmental delay,
- Neurological disorders with features suggestive of an inherited condition
- Fragile X syndrome
- Connective tissue disorders, e.g. Marfan syndrome, Ehlers-Danlos, osteogenesis imperfecta
- Familial cancer syndromes, e.g. hereditary breast and ovarian cancer, Lynch syndrome
- Metabolic disorders
- Inherited cardiac conditions, e.g. Long QT syndrome, hypertrophic cardiomyopathy
- Cystic fibrosis
- Muscular dystrophies (Duchenne, Becker, myotonic)
- Chromosome alterations
Chromosome test - karyotype
Chromosomes are structures consisting of thousands of genes, and are found in the nucleus of most cells. A chromosome test will identify certain chromosomal abnormalities such as missing or extra chromosomes or parts of chromosomes. It will also detect rearrangements of chromosomal material.
Chromosomal microarrays allow much smaller chromosome changes to be detected than can be identified on a standard chromosome test. A microarray is recommended as a first line test for many patients with intellectual, physical or behavioural differences. Sometimes parental samples are also required to evaluate the significance of a difference.
Genes are made up of DNA (deoxyribonucleic acid). Each gene has a different function. Most of them tell us how to make one of the many proteins that our bodies need to work properly.
A DNA test looks for faults (mutations) in a particular gene or set of genes. Some genetic disorders, mostly rare, are caused by faults in individual genes. Testing for these conditions can be complex and we sometimes need to send samples to genetic laboratories elsewhere (often overseas) that specialise in a particular condition.
It is important to bear in mind that not all inherited diseases require a genetic test to make a firm diagnosis and that a negative test does not necessarily exclude a condition. Genetic testing is not always available or appropriate. Some genetic tests are prohibitively expensive.
Referrals to clinics can be arranged by faxing or posting a request to Wellington, Christchurch or Auckland Hospital or to your local hospital who will pass this to the nearest service. See the contact details below. See also the areas covered by each regional service.
Note that referral from a health professional is preferred, as detailed medical information will usually be required.
Genetic Health Service NZ – Northern Hub
Auckland City Hospital
Private Bag 92024
Victoria Street West
Ph: (09) 307 4949 Ext. 25870
Toll Free: 0800 476 123
Fax: (09) 307 4978
Genetic Health Service NZ – Central Hub
Private Bag 7902
Ph: (04) 385 5310
Toll free: 0508 364 436
Fax: (04) 385 5822
Genetic Health Service NZ – South Island Hub
Private Bag 4710
Ph: (03) 378 6574
Toll free: 0508 364 436
Fax: (03) 379 1343
After the appointment
Patients seen through Genetic Health Service NZ receive a detailed explanatory letter after their assessment, with copies sent to their referring doctor, general practitioner or other specialists involved.