2014314
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Autism and Intellectual Disability Comprehensive Panel

AID COMP
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Autism and Intellectual Disability Patient History Form

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Additional Technical Information

Ordering Recommendation

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

New York DOH Approval Status

This test is not New York state approved. There are no New York state-approved laboratories available. Submit a Non-Permitted Laboratory Request Form (NPL) to the NYDOH prior to collection of specimen. If NPL is approved by NYDOH, and sample is received at ARUP, testing will be performed.

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

Collect

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.

Remarks

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 https://www.aruplab.com/patienthistory or by contacting ARUP Client Services.

Stability

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

Methodology

Tandem Mass Spectrometry/Electrophoresis/Spectrophotometry/ Gas Chromatography-Mass Spectrometry/Liquid Chromatography-Tandem Mass Spectrometry/Quantitative Liquid Chromatography-Tandem Mass Spectrometry, Genomic Microarray (Oligo-SNP Array), Polymerase Chain Reaction/Capillary Electrophoresis

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.

Compliance Category

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); 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

N/A

CPT Codes

82017; 82664; 83864; 83918; 82540 x2; 82542 x2; 82570; 82139; 81229; 81243; if reflexed, add 81244

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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
0050556 Fragile X Allele 1 45321-7
0050558 Fragile X Allele 2 45322-5
0050559 Fragile X Methylation Pattern 41107-4
0050579 Fragile X Interpretation 36913-2
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
2001310 FRAG X Specimen 66746-9
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
2003415 Cytogenomic SNP Microarray 62375-1
2003416 EER Cytogenomic SNP Microarray 11526-1
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
2014315 Autism/Intellectual Interp
3002336 Creatinine, Urine 2161-8
* 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.

Aliases

Autism and Intellectual Disability Comprehensive Panel