Gene Testing Service for HSP now available. A reliable genetic testing service for the 3 major HSP genes is now available Australia-wide.
The Service
The service will help neurologists, clinical geneticists and family doctors by:
- Providing positive diagnoses of HSP – currently doctors rely on physical symptoms and the condition is not uncommonly mis-diagnosed.
- Screening for family members when there is a known family mutation.
- Helping with family planning choices for HSPers.
Read more about the benefits and considerations in getting gene tested.
The testing service is for the detection of mutations in:
- SPG4 (spastin)
- SPG3A (atlastin)
- SPG31 (REEP1) and also
- Screening for known family mutations.
The service is available through the MolMed Laboratory of the Central Sydney Area Health Service at Concord, Sydney.
| Test | SPG4 or 3A only | SPG31 | All 3 genes | Screening |
|---|---|---|---|---|
| Turnaround time: | 3-4 months | 3-4 months | 6-7 months | On Application |
| Cost | $800 | $500 | $1800 | $200 |
The Process
The process is that the Doctor requesting the test completes and signs the request form with the patient and sends it to the Molecular Medicine Laboratory. Then Molmed sends the Doctor ‘Patient Test – Pricing Information’ and a Cost Agreement stating the name of test and its cost. The patient agrees to payment by signing and returning this form and this often accompanies the blood sample. The patient is then invoiced by Molmed when the test is completed.
The exception to this is where the patient is a patient with a public hospital and there is a pre-existing arrangement for Molmed to cover the cost of the test. The pre-existing arrangement applies to all hospitals in the South-West Sydney Area Health Service and for other public hospitals in NSW the Area Health Service concerned absorbs the cost by an internal NSW system.
For gene testing orders from other states the Doctor completes the same test order form with the patient and Molmed sends the cost agreement form for signing and the patient is invoiced and pays.
There is no pre-existing cost agreement between molecular medicine laboratory and public hospitals. Our laboratory will invoice all public hospitals, if the patients are from them, except public hospitals under Sydney South West Area Health Service. Each hospital might have its own policy regarding the cost payment. Patients need to check with their doctors.
Procedural details for ordering the tests, and related information are available here.
If a test comes back negative, and you wish to have the sample further tested for mutations in rarer HSP genes, this can be done at a European research laboratory at no additional cost. However the ensuing result must then be validated in a clinical lab and a fee charged for that test.
Getting Started
To be a candidate for testing, a neurologist must first diagnose that an individual may have, or be at risk of HSP. From there, it is on to a clinical genetics service. They are listed on the Centre for Genetics website and can be found, with phone numbers and addresses, at:
http://www.genetics.com.au/services/counsel.asp
If you can’t access the web, phone your local public hospital and, if they do not have a genetics service (some call it genetics counselling service) they will tell you the closest hospital that does. Clinical Geneticists are doctors and a referral is not required. If you prefer, ask your neurologist for a contact.
A well-established protocol is followed. This includes the important role of genetic counselling which involves a genetic counsellor gathering and recording genetic information and family relationships on your family tree, helping you understand options and implications, offering guidance and support to help you make informed choices, and to help you understand and deal with test results when they become available. All information gathered is maintained by the genetic counsellor and privacy is strictly observed even within the family. The Clinical Genetics service, apart from the cost of the genetic test, is a service provided free by the State in most cases.
HSPers should seek genetic counselling to help understand (if a test is positive) the ramifications of knowing the family mutation and benefits to current and future generations. Individual family members can consider the simple screening test and discuss it with the same counsellor.
An individual family member who learns from screening that they are an asymptomatic carrier will benefit from discussion of life choices ahead of possible onset, including things like a physical therapy program and parenting issues if potentially applicable.
Learn more about Genetic Counselling.