MOLECULAR STUDY SLC6A3 GENE , SEQUENCING, WHOLE BLOOD

New Test in CIC Catalog

Test Code: 4170

Sample:	Whole blood - EDTA (5 ml)
Conservation:	Refrigerated
Method:	Sequencing Method
Set Up Days:	Daily
Plazo de Entrega:	32 days
Information:
Parkinsonism-dystonia infantile (PKDYS) is caused by mutations in the SLC6A3 gene, which encodes a dopamine transporter (DAT1). A neurodegenerative disorder characterized by infantile onset of parkinsonism and dystonia. Other neurologic features include global developmental delay, bradikinesia and pyramidal tract signs. The dopamine transporter DAT1 is involved in the reuptake of dopamine from the synaptic cleft to the presynaptic neuron. This mutation is associated to a loss of function thereby impairing dopamine reuptake. In this study, the affected patients showed increased levels of dopamine metabolites in the cerebrospinal fluid (CSF). This drove the conclusion that the excess of dopamine in the synaptic left can deplete intracellular stores of dopamine, and down regulate the postsynaptic receptors.
Links:
OMIM Entry - # 613135 - PARKINSONISM-DYSTONIA, INFANTILE; PKDYS
OMIM Entry - - 126455 - SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, DOPAMINE), MEMBER 3; SLC6A3

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