NNI Neurogenetics Laboratory
The value of molecular gene testing for genetic diseases, especially neurogenetic diseases,
is increasingly recognized in clinical medicine. Molecular gene testing helps to identify
the specific genetic disease when several genetic diseases share a common clinical presentation,
eg among the herediatary motor and sensory neuropathies (or Charcot Marie Tooth diseases) or
the limb girdle muscular dystrophies. It can help the physician confirm the diagnosis of a specific
genetic disease when that disease shows variant or atypical clinical features. When disease
features are very mild, diagnosis may remain uncertain without confirmation by molecular gene testing.
In managing patients wiht genetic diseases and their families, molecular gene testing is usually
necessary for genetic counselling and always necessary for pre-natal diagnosis.
Currently, the genetic diseases for which the Neurogenetics Laboratory offers molecular gene
testing include:
|
Disease |
Gene |
| A Hereditary Neuropathies |
|
| 1. Charcot Marie Tooth disease type 1A |
PMP22 |
|
2. Hereditary neuropathy with liability to pressure palsies |
PMP22 |
|
3. Charcot Marie Tooth disease type 1B |
P0 |
|
4. X-linked Charcot Marie Tooth disease |
GJB1 |
|
5. Dejerine Sottas Disease |
PMP22, P0, EGR2 |
| 6. Transthyretin related familial amyloid neuropathy |
TTR |
|
|
|
B Muscular Dystrophies & Other Genetic Muscle Diseases |
|
|
7. Dystrophia myotonica (myotonic dystrophy) type I |
DMPK |
|
8. Desmin myopathy |
DES |
|
|
|
C. Periodic Paralysis + Myotonic Myopathies |
|
|
9. Hypokalemic periodic paralysis |
CACNA1s, SCN4A |
|
10.Hyperkalemic periodic paralysis |
SCN4A |
|
11.Paramyotonia congenita |
SCN4A |
|
|
|
D. Anterior Horn Cell Diseases |
|
|
12. Kennedy’s disease (X-linked spinal bulbar muscular atrophy) |
AR |
|
13. Familial amyotrophic lateral sclerosis |
SOD1 |
|
|
|
E. Movement Disorders |
|
|
14. Hereditary torsion dystonia |
DYT1 |
|
15. Dopa-responsive dystonia |
GCH1 |
|
|
|
F. Stroke Syndromes |
|
|
16.Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) |
NOTCH3 |
Gene tests for the following diseases are available only as research collaboration. Please contact the
laboratory directly for these tests.
|
17. Limb girdle muscular dystrophy type 1B |
LMNA |
|
18. Limb girdle muscular dystrophy type 1C |
CAV3 |
|
19. Limb girdle muscular dystrophy type 2B |
DYSF |
|
20. Limb girdle muscular dystrophy type 2G |
TELE |
|
21. Limb girdle muscular dystrophy type 2I |
FKRP |
|
22. Hereditary hyaline inclusion body disease |
MYH7 |
|
23. Hereditary distal myopathy with rimmed vacuoles /
Hereditary inclusion body myopathy |
GNE |
Physicians intending to refer patients for molecular gene tests should be prepared to counsel or provide
counseling to the patient on the purpose and issues involved when obtaining informed consent
for the test and on reporting the results of the test. These tests are best applied by specialists in the field
or doctors familiar with the disease and its genetic issues. The Laboratory will ensure full confidentiality
and careful quality control in the testing and reporting process.
|
Operating Hours |
|
Monday to Thursday: 8.00am to 5.30pm
Friday: 8.00am to 5.00pm
Saturday, Sunday & Public Holidays: Closed |
Location |