Medical Genetics Test Details
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|Succinyladenosine - CSF|
|Test Information:||This test provides quantitative analysis of succinyladenosine in cerebrospinal fluid.
Succinyladenosine is elevated in adenylosuccinate lyase (ADSL) deficiency and results in succinylpurinemic autism, intellectual disability, and, in some cases, growth retardation associated with muscle wasting and epilepsy. Adenylosuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate by catalyzing two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. In the absence of ADSL deficiency, succinyladenosine is either not detected or at very low levels in the CSF.
This test is used for screening Adenylosuccinate Lyase Deficiency (OMIM 103050).
Purine and Pyrimidine Panel in Urine (#4010) is also available for diagnosis of 9 disorders in either purine or pyrimidine metabolism.
Sulfocysteine in Urine (#4225) is required in the diagnosis of Molybdenum Cofactor Deficiency.
|Methodology:||Tandem Mass Spectroscopy|
|Test Type:||Analyte Analysis|
|References Values or Ranges:||Age specific ranges are provided in the report.
|Sample & Shipping Information|
|Specimen Type:||Cerebrospinal Fluid|
|Requirements:||Send 1-2 cc of cerebrospinal fluid. Store the specimen frozen at -20C. Specimen may be stored frozen for up to 7 days.
|Shipping Conditions:||Ship frozen on dry ice in an insulated container by overnight courier.
|Turn Around Time:||8 days|
|List Price:||*For Insurance or Institutional Prices, please call.|