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Autism and Intellectual Disability Metabolic Panel
Ordering Recommendation
Evaluate for autism-spectrum disorder and/or intellectual disability in individuals who have had negative FMR1 (fragile X) and cytogenomic SNP microarray testing.
New York DOH Approval Status
Specimen Required
Urine: Morning void preferred.
Plasma: Adults: Fasting specimen preferred. Infants and children: Draw specimen prior to feeding or 2-3 hours after a meal.
Urine and Plasma.
Urine: Random urine. Avoid dilute urine when possible.
Plasma: Green (Sodium or Lithium Heparin).
Urine: Transfer 15 mL urine to ARUP Standard Tubes and freeze immediately. (Min: 10mL; for volumes less than 10 mL, contact the Biochemical Genetics Lab before sending the specimen) Avoid dilute urine when possible. Label container with specimen type.
Plasma: Separate from cells ASAP or within 2 hours of collection. Avoid transferring buffy coat material. Transfer 2.5 mL plasma to an ARUP Standard Transport Tube and freeze immediately. (Min: 0.75 mL) Label container with specimen type.
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Urine: Specimens exposed to more than one freeze/thaw cycle. Specimens containing preservatives.
Plasma: Specimens exposed to more than one freeze/thaw cycle. Hemolyzed specimens.
Clinical information is needed for appropriate interpretation. Additional required information includes age, gender, diet (e.g., TPN therapy), drug therapy, and family history. Biochemical Genetics Patient History Form is available on the ARUP Web site at https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.
Urine: Ambient: Unacceptable; Refrigerated: Unacceptable; Frozen: 1 month
Plasma: After separation from cells: Ambient: Unacceptable; Refrigerated: 24 hours; Frozen: 1 month
Methodology
Tandem Mass Spectrometry/Electrophoresis/Spectrophotometry/ Gas Chromatography-Mass Spectrometry/Liquid Chromatography-Tandem Mass Spectrometry
Performed
Varies
Reported
5-18 days
Reference Interval
By report
Interpretive Data
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Laboratory Developed Test (LDT)
Note
This panel includes Acylcarnitine Quantitative Profile, Plasma (ARUP test code 0040033); Mucopolysaccharides Screen - Electrophoresis and Quantitation, Urine (ARUP test code 0081352); Organic Acids, Urine (ARUP test code 0098389); Creatine Disorders Panel, Serum or Plasma (ARUP test code 2002328); Creatine Disorders Panel, Urine (ARUP test code 2002333); Amino Acids Quantitative by LC-MS/MS, Plasma (ARUP test code 2009389)
Hotline History
CPT Codes
82017; 82664; 83864; 83918; 82540 x2; 82542 x2; 82570; 82139
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 0040029 | C5-OH, 3-OH Isovaleryl | 39001-3 |
| 0040037 | C2, Acetyl | 30191-1 |
| 0040038 | C3, Propionyl | 30551-6 |
| 0040039 | C4, Iso-/Butyryl | 51413-3 |
| 0040042 | C5, Isovaleryl/2Mebutyryl | 30531-8 |
| 0040046 | C5-DC, Glutaryl | 30349-5 |
| 0040047 | C6, Hexanoyl | 30358-6 |
| 0040049 | C8, Octanoyl | 30540-9 |
| 0040054 | C8:1, Octenoyl | 30541-7 |
| 0040057 | C10, Decanoyl | 30327-1 |
| 0040058 | C10:1, Decenoyl | 30328-9 |
| 0040062 | C12, Dodecanoyl | 30331-3 |
| 0040063 | C12:1, Dodecenoyl | 30332-1 |
| 0040064 | C12-OH, 3-OH-Dodecanoyl | 30233-1 |
| 0040066 | C14, Tetradecanoyl | 30565-6 |
| 0040067 | C14:1, Tetradecenoyl | 30566-4 |
| 0040068 | C14:2, Tetradecadienoyl | 30564-9 |
| 0040069 | C14-OH, 3-OH-Tetradecanoyl | 30238-0 |
| 0040074 | C14:1-OH, 3-OH-Tetradecenoyl | 30190-3 |
| 0040076 | C16, Palmitoyl | 30356-0 |
| 0040077 | C16:1, Palmitoleyl | 30357-8 |
| 0040078 | C16-OH, 3-OH-Palmitoyl | 30234-9 |
| 0040079 | C16:1-OH, 3-OH-Palmitoleyl | 30235-6 |
| 0040087 | C18, Stearoyl | 30560-7 |
| 0040093 | C18:1, Oleyl | 30542-5 |
| 0040094 | C18:2, Linoleyl | 30534-2 |
| 0040097 | C18-OH, 3-OH-Stearoyl | 35656-8 |
| 0040098 | C18:1-OH, 3-OH-Oleyl | 30312-3 |
| 0040101 | C18:2-OH, 3-OH-Linoleyl | 30237-2 |
| 0080010 | Alanine, Plasma | 20636-7 |
| 0080025 | Arginine, Plasma | 20637-5 |
| 0080035 | Aspartic Acid, Plasma | 20639-1 |
| 0080083 | Citrulline, Plasma | 20640-9 |
| 0080140 | Glutamine, Plasma | 20643-3 |
| 0080150 | Glutamic Acid, Plasma | 20642-5 |
| 0080155 | Glycine, Plasma | 20644-1 |
| 0080160 | Histidine, Plasma | 20645-8 |
| 0080170 | Hydroxyproline, Plasma | 20647-4 |
| 0080185 | Isoleucine, Plasma | 20648-2 |
| 0080205 | Leucine, Plasma | 20649-0 |
| 0080210 | Lysine, Plasma | 20650-8 |
| 0080225 | Methionine, Plasma | 20651-6 |
| 0080245 | Ornithine, Plasma | 20652-4 |
| 0080265 | Phenylalanine, Plasma | 14875-9 |
| 0080295 | Proline, Plasma | 20655-7 |
| 0080335 | Serine, Plasma | 20656-5 |
| 0080345 | Taurine, Plasma | 20657-3 |
| 0080350 | Threonine, Plasma | 20658-1 |
| 0080356 | Tyrosine, Plasma | 20660-7 |
| 0080370 | Valine, Plasma | 20661-5 |
| 0080715 | Homocystine, Plasma | 20646-6 |
| 0080717 | Allo-isoleucine, Plasma | 22670-4 |
| 0081026 | Lactic Acid, Urine | 25112-4 |
| 0081027 | Pyruvic Acid, Urine | 25132-2 |
| 0081028 | Succinic Acid, Urine | 25136-3 |
| 0081029 | 2-Ketoglutaric Acid, Urine | 29507-1 |
| 0081030 | Fumaric Acid, Urine | 25101-7 |
| 0081031 | Methylmalonic Acid, Urine | 25116-5 |
| 0081032 | 3-OH-Butyric Acid, Urine | 29509-7 |
| 0081033 | Acetoacetic Acid, Urine | 29524-6 |
| 0081034 | 2-Keto-3-methylvaleric Acid, Urine | 25083-7 |
| 0081035 | 2-Ketoisocaproic Acid, Urine | 25084-5 |
| 0081036 | 2-Ketoisovaleric Acid, Urine | 25085-2 |
| 0081037 | Ethylmalonic Acid, Urine | 25099-3 |
| 0081038 | Adipic Acid, Urine | 29859-6 |
| 0081039 | Suberic Acid, Urine | 25135-5 |
| 0081040 | Sebacic Acid, Urine | 25134-8 |
| 0081041 | 4-OH-phenylacetic Acid, Urine | 25088-6 |
| 0081042 | 4-OH-phenyllactic Acid, Urine | 25089-4 |
| 0081043 | 4-OH-phenylpyruvic Acid, Urine | 29519-6 |
| 0081169 | Succinylacetone, Urine | 25137-1 |
| 0081355 | Mucopolysaccharides mg/mmol CRT | 46132-7 |
| 0099865 | Cystine, Plasma | 22672-0 |
| 2002330 | Guanidinoacetic acid, Serum/Plasma | 33244-5 |
| 2002331 | Creatine, Serum/Plasma | 15045-8 |
| 2002334 | Creatinine, Urine | 14683-7 |
| 2002336 | Guanidinoacetic acid, Urine | 34155-2 |
| 2002338 | Creatine, Urine | 34275-8 |
| 2009392 | Alpha-amino butyric acid, Plasma | 20634-2 |
| 2009393 | Alpha-aminoadipic acid, Plasma | 26600-7 |
| 2009394 | Argininosuccinic Acid, Plasma | 32227-1 |
| 2009395 | Beta-amino isobutyric acid, Plasma | 26605-6 |
| 2009396 | Beta-alanine, Plasma | 26604-9 |
| 2009398 | Ethanolamine, Plasma | 26608-0 |
| 2009399 | Gamma-amino butyric acid, Plasma | 26609-8 |
| 2009402 | Sarcosine, Plasma | 26613-0 |
| 2009403 | Tryptophan, Plasma | 20659-9 |
| 2009404 | Anserine, Plasma | 26599-1 |
| 2009405 | Asparagine, Plasma | 20638-3 |
| 2009406 | Cystathionine, Plasma | 26607-2 |
| 2009407 | Homocitrulline, Plasma | 55876-7 |
| 2009408 | Hydroxylysine, Plasma | 26610-6 |
| 2014313 | Autism/Intellectual Disablility Interp | 50595-8 |
| 3002336 | Creatinine, Urine | 2161-8 |
