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.

Tandem Mass Spectrometry, Electrophoresis/Spectrophotometry, Gas Chromatography/Mass Spectrometry, Liquid Chromatography/Tandem Mass Spectrometry
5-18 days
New York DOH Approval Status
This test is New York DOH approved.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
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). 
Specimen Preparation
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. 
Storage/Transport Temperature
CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered. 
Unacceptable Conditions
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 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 
Reference Interval
By report
Interpretive Data

Compliance Statement B: This test was developed and its performance characteristics determined by ARUP Laboratories. The U.S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

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)
CPT Code(s)
82017; 82664; 83864; 83918; 82540 x2; 83789 x2; 82570; 82139
Component Test Code*Component Chart NameLOINC
0020533Creatinine, Urine2161-8
0040029C5-OH, 3-OH Isovaleryl39001-3
0040037C2, Acetyl30191-1
0040038C3, Propionyl30551-6
0040039C4, Iso-/Butyryl51413-3
0040042C5, Isovaleryl/2Mebutyryl30531-8
0040046C5-DC, Glutaryl30349-5
0040047C6, Hexanoyl30358-6
0040049C8, Octanoyl30540-9
0040054C8:1, Octenoyl30541-7
0040057C10, Decanoyl30327-1
0040058C10:1, Decenoyl30328-9
0040062C12, Dodecanoyl30331-3
0040063C12:1, Dodecenoyl30332-1
0040064C12-OH, 3-OH-Dodecanoyl30233-1
0040066C14, Tetradecanoyl30565-6
0040067C14:1, Tetradecenoyl30566-4
0040068C14:2, Tetradecadienoyl30564-9
0040069C14-OH, 3-OH-Tetradecanoyl30238-0
0040074C14:1-OH, 3-OH-Tetradecenoyl30190-3
0040076C16, Palmitoyl30356-0
0040077C16:1, Palmitoleyl30357-8
0040078C16-OH, 3-OH-Palmitoyl30234-9
0040079C16:1-OH, 3-OH-Palmitoleyl30235-6
0040087C18, Stearoyl30560-7
0040093C18:1, Oleyl30542-5
0040094C18:2, Linoleyl30534-2
0040097C18-OH, 3-OH-Stearoyl35656-8
0040098C18:1-OH, 3-OH-Oleyl30312-3
0040101C18:2-OH, 3-OH-Linoleyl30237-2
0080010Alanine, Plasma20636-7
0080025Arginine, Plasma20637-5
0080035Aspartic Acid, Plasma20639-1
0080083Citrulline, Plasma20640-9
0080140Glutamine, Plasma20643-3
0080150Glutamic Acid, Plasma20642-5
0080155Glycine, Plasma20644-1
0080160Histidine, Plasma20645-8
0080170Hydroxyproline, Plasma20647-4
0080185Isoleucine, Plasma20648-2
0080205Leucine, Plasma20649-0
0080210Lysine, Plasma20650-8
0080225Methionine, Plasma20651-6
0080245Ornithine, Plasma20652-4
0080265Phenylalanine, Plasma14875-9
0080295Proline, Plasma20655-7
0080335Serine, Plasma20656-5
0080345Taurine, Plasma20657-3
0080350Threonine, Plasma20658-1
0080356Tyrosine, Plasma20660-7
0080370Valine, Plasma20661-5
0080715Homocystine, Plasma20646-6
0080717Allo-isoleucine, Plasma22670-4
0081026Lactic Acid, Urine25112-4
0081027Pyruvic Acid, Urine25132-2
0081028Succinic Acid, Urine25136-3
00810292-Ketoglutaric Acid, Urine29507-1
0081030Fumaric Acid, Urine25101-7
0081031Methylmalonic Acid, Urine25116-5
00810323-OH-Butyric Acid, Urine29509-7
0081033Acetoacetic Acid, Urine29524-6
00810342-Keto-3-methylvaleric Acid, Urine25083-7
00810352-Ketoisocaproic Acid, Urine25084-5
00810362-Ketoisovaleric Acid, Urine25085-2
0081037Ethylmalonic Acid, Urine25099-3
0081038Adipic Acid, Urine29859-6
0081039Suberic Acid, Urine25135-5
0081040Sebacic Acid, Urine25134-8
00810414-OH-phenylacetic Acid, Urine25088-6
00810424-OH-phenyllactic Acid, Urine25089-4
00810434-OH-phenylpyruvic Acid, Urine29519-6
0081169Succinylacetone, Urine25137-1
0081355Mucopolysaccharides mg/mmol CRT46132-7
0099865Cystine, Plasma22672-0
2002330Guanidinoacetic acid, Serum/Plasma33244-5
2002331Creatine, Serum/Plasma15045-8
2002334Creatinine, Urine14683-7
2002336Guanidinoacetic acid, Urine34155-2
2002338Creatine, Urine34275-8
2009392Alpha-amino butyric acid, Plasma20634-2
2009393Alpha-aminoadipic acid, Plasma26600-7
2009394Argininosuccinic Acid, Plasma32227-1
2009395Beta-amino isobutyric acid, Plasma26605-6
2009396Beta-alanine, Plasma26604-9
2009398Ethanolamine, Plasma26608-0
2009399Gamma-amino butyric acid, Plasma26609-8
2009402Sarcosine, Plasma26613-0
2009403Tryptophan, Plasma20659-9
2009404Anserine, Plasma26599-1
2009405Asparagine, Plasma20638-3
2009406Cystathionine, Plasma26607-2
2009407Homocitrulline, Plasma55876-7
2009408Hydroxylysine, Plasma26610-6
2014313Autism/Intellectual Disablility Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.