Succinyladenosine (CSF)

Test Details
TAT (TURNAROUND TIME) 10 - 14 days
CPT CODE 82542
PRICE $190
  • CSF Collection Tubes (set of 5 tubes per kit)

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Clinical Information
Clinical Significance CSF Succinyladenosine (NC06) is useful for diagnosing Adenylosuccinate Lyase Deficiency . This testing may also be used for assessment of Variants of Uncertain Significance (VUS) identified during genetic testing (e.g. Next Generation Sequencing or Capillary Sequencing Testing). CLINICAL 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. Small elevations of succinyladenosine in spinal fluid have been reported in AICA-Ribosiduria (deficiency of AICAR transformylase) a devastating condition involving profound mental retardation, epilepsy, dysmorphic features and congenital blindness. Small elevations are also seen secondary to fumarase deficiency.
Relevant Diseases
  • Adenylosuccinase Deficiency

Specimen Information
Acceptable Sample Types
  • Cerebrospinal Fluid (CSF)
Sample Preparation: Fill the tubes sequentially to the marked line Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter Without MNG CSF Collection Kit: Collect samples into 5 numbered 2.0 mL microcentrifuge tubes (or similar): Tube 1: 0.5 milliliter, Tube 2: 1.0 milliliter, Tube 3: 1.0 milliliter, Tube 4: 1.0 milliliter, Tube 5: 1.0 milliliter OR Collect entire sample into a single sterile tube, which is considered a pooled CSF sample. Neurotransmitter analysis may only be informative for certain disorders (NC04 analysis). Please contact the laboratory for more information.
Shipping Condition: Ship samples priority overnight on 3-4 lbs of dry ice. Sample must arrive in our lab Monday - Saturday. We do NOT accept Sunday or holiday deliveries.

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