Analytic Time

10 - 14 days

MiChart Code
Succinyladenosine (CSF)
Soft Order Code
SUCAD

Test Updated:

Synonyms
 

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Test Overview

Test Methodology

HPLC/UV Detection

Test Usage

CSF Succinyladenosine 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). 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.

Reference Range
 

* Reference ranges may change over time. Please refer to the original patient report when evaluating results.

Specimen Requirements

Normal Volume
4.5 mL CSF
Minimum Volume
 

Billing Information

CPT Code
82542
Pro Fee Code
 
LOINC
 

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Quality that sets us apart

As the reference laboratory division of Michigan Medicine's Department of Pathology, MLabs shares the institution's commitment to applying established quality principles to clinical laboratory testing. Like other large organizations in complex, consequential fields, we rely on an established approach to monitor quality throughout the testing process.