LabPLUS is part of Auckland District Health Board
and provides medical laboratory testing
| Services |
MOLECULAR GENETICS TESTS - FRIEDREICH'S ATAXIA |
| Background: Friedreich's Ataxia (FA), an autosomal recessive neurodegenerative disorder, is the most common inherited ataxia. FA is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function. Classical features of FA are ataxia of all four limbs, associated with cerebellar dysarthria, absent reflexes in the lower limbs, sensory loss and pyramidal signs. The onset of symptoms is usually around 25 years of age and the progression of the disease is rapid. The gene responsible for causing FA is located on chromosome 9q13. The gene FRDA1 gene comprises of 6 exons and encodes a protein 210 amino acids in length. Analysis:
Speciment Requirements: Blood: 3 x 4.0mL whole blood into EDTA tubes . Invert several times to mix. Forward within 24-48 hours at ambient temperature. Paediatric Samples: Minimum of 0.5mL whole blood in EDTA tubes. Prenatal Samples:
200 mg of tissue. Specimen must be snap frozen within one hour of collection. Send specimen frozen on dry ice. Paraffin blocks of tissue are also acceptable. The tissue sample should not have had prolonged immersion in formalin before embedding. NOTE:
6 weeks once sample is received. Cost of test: FA - $928 Note: Prices excludes GST (12.5%) and may change without notice. Please click on a link below to view information about another specific test.
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