Early onset Parkinson Disease 6 is an autosomal recessive disorder caused by homozygous or compound heterozygous in the PINK1 gene of chromosome 1 (1p36). This disorder is characterised by early onset of tremor, bradykinesia, and rigidity that are often indistinguishable from other causes of Parkinson disease. Disease is slowly progressive and individuals have a favourable response to levodopa.
The diagnosis of PINK1-related early-onset Parkinson Disease 6 is suspected in individuals with early-onset parkinsonism (<40 years of age), with a family history suggestive of autosomal recessive inheritance. Diagnosis is established by identification of biallelic PINK1 variants by molecular genetic testing.
Genetics - Molecular Pathology
Patient specimen - EDTA, extracted DNA, buccal swab, saliva
This genetic test requires nucleated cells. Please do not centrifuge or freeze the EDTA blood tube.
Ambient (8 - 24 degrees Celsius)
Please do not centrifuge or freeze the EDTA blood tube.
Coding regions and flanking intronic sequences of all 8 exons of the PINK1 gene are amplified by PCR and analysed by automated fluorescent bi-directional DNA sequencing.
Familial testing is also available.
$700.00 (Exclusive of GST)
Genomic DNA must be extracted from the specimen prior to testing. This incurs an additional charge (see GDNA). Laboratories may prefer to submit DNA for testing. Please provide a minimum of 5 micrograms of DNA at 20 nanograms/microlitre.
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