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Medical Specialties & Services > Neurogenetics Laboratory > Neurogenetics Laboratory

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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

Neurogenetics Laboratory (Level 2)
National Neuroscience Institute
11 Jalan Tan Tock Seng
Singapore 308433

  

Enquiries & Referrals


Telephone:  (65) 6357-7132 / (65) 6357-7135 
Facsimile:   (65) 6357-7108