Genetic test For Inherited Neurological Diseases and Neurodegenerative Diseases

Overview

Genetic tests are inevitable for precise diagnosis of inherited neurological diseases and a few of neurodegenerative diseases caused by genetic mutations. In addition to making a diagnosis in a patient who already has disease symptoms, genetic tests can also help find out whether asymptomatic people have a mutation for a disease. Although there is no cure for many inherited neurological diseases or neurodegenerative diseases, the genetic test results still may help make important life decisions, such as family and life planning.  

 

The Neurogenetics Unit at the Department of Neurology, Taipei Veterans General Hospital offers a comprehensive genetic testing service encompassing clinical Spinocerebellar ataxia (SCA), Huntington's disease (HD), neuromuscular disorders including Amyotrophic lateral sclerosis (ALS), Charcot-Marie-Tooth disease (CMT), Familial amyloidotic polyneuropathy (FAP) and spinobulbar muscular atrophy (SBMA).

 

Features

The items of the genetic tests we can provide are listed in the following:

  • SCA groups: SCA1,2,3,6,7,10,12,17,DRPLA
  • HD
  • Familial ALS: SOD1 mutation, TARDBP mutation, FUS mutation, C9ORF72 C2G4 repeat expansion
  • CMT: CMT1A (PMP22 duplication), CMT1B (MPZ mutation), CMT1X (GJB1 mutation)
  • FAP: TTR mutation
  • SBMA

 

Procedure

The patients who suffered from symptoms and signs of the above disease, the clinical physician can referred the patients to our department of neurology’s outpatient department. After clinical assessment and diagnosis, our doctors will transferred the patients to our neurogenetics unit for molecular genetic testing and counseling. We will obtain the patient‘s DNA from their blood samples for genetic testing. All genetic testing requires consent. The laboratory assumes that provision of a clinical sample, and a completed referral form, implies that consent has been obtained by the referring clinician.

 

Estimated Cost

The cost of genetic testing can range from 6,100NTD to 30,500NTD per item, depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. From the date that a sample is taken, it may take two months to give a report.