Autism and Intellectual Disability Comprehensive Panel
Ordering Recommendation

Comprehensive genetic evaluation of individuals with autism-spectrum disorder and/or intellectual disability.

Tandem Mass Spectrometry, Electrophoresis/Spectrophotometry, Gas Chromatography/Mass Spectrometry, Liquid Chromatography/Tandem Mass Spectrometry, and Quantitative Liquid Chromatography/Tandem Mass Spectrometry, Genomic Microarray (Oligo-SNP Array), Polymerase Chain Reaction/Capillary Electrophoresis
5-18 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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.
Whole Blood Specimens: no collection time requirements 
Test Requires 4 Specimens: Urine, Plasma, and 2 Whole Blood
Urine: Random urine. Avoid dilute urine when possible.
Plasma: Green (Sodium or Lithium Heparin).
Whole Blood, Specimen 1: Lavender (EDTA), Pink (K2 EDTA), or Yellow (ACD).
Whole Blood, Specimen 2: Green (Sodium Heparin). Also acceptable: Lavender (EDTA). 
Specimen Preparation
Urine: Transfer 15 mL urine to ARUP Standard Tubes and freeze immediately. (Min: 10 mL; for volumes less than 10 mL, contact the Biochemical Genetics Lab before sending the specimen) Avoid dilute urine when possible.
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)
Whole Blood Specimens: Transport 5 mL whole blood for each tube. (Min: 1.5 mL each) 
Storage/Transport Temperature
Urine and Plasma: CRITICAL FROZEN. Separate specimens must be submitted when multiple tests are ordered.
Whole Blood Specimens:
Room temperature. 
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.
Whole Blood Specimens: Clotted specimens. 
Label each container with specimen type.
Urine and Plasma: 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
Whole Blood, Specimen 1: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Whole Blood, Specimen 2: Ambient: 48 hours; Refrigerated: 72 hours; Frozen: Unacceptable 
Reference Interval
By report
Interpretive Data

Statement B: Compliance Statement B: For laboratory developed tests not using a RUO kit, and for FDA approved, cleared or 510(k) exempt assays with alterations. 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); Cytogenomic SNP Microarray (ARUP test code 2003414); Fragile X (FMR1) with Reflex to Methylation Analysis (ARUP test code 2009033). If Fragile X testing detects a CGG repeat of 100 or greater by PCR and capillary electrophoresis, methylation analysis will be added. Additional charges apply.
Hotline History
View Hotline History
CPT Code(s)
82017; 82664; 83864; 83918; 82540 x2; 82542 x2; 82570; 82139; 81229; 81243; if reflexed, add 81244
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
0050556Fragile X Allele 145321-7
0050558Fragile X Allele 245322-5
0050559Fragile X Methylation Pattern41107-4
0050579Fragile X Interpretation36913-2
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
2001310FRAG X Specimen66746-9
2002330Guanidinoacetic acid, Serum/Plasma33244-5
2002331Creatine, Serum/Plasma15045-8
2002334Creatinine, Urine14683-7
2002336Guanidinoacetic acid, Urine34155-2
2002338Creatine, Urine34275-8
2003415Cytogenomic SNP Microarray62375-1
2003416EER Cytogenomic SNP Microarray11526-1
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
2014315Autism/Intellectual 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 view this test within the Laboratory Test Directory found at