Test Overview

Test Methodology

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Test Usage

Autism/ID panel analysis can be performed on patients who meet the criteria for Autism Spectrum Disorders (ASD) or Intellectual Disability. ASD is a clinically heterogeneous group of disorders that are characterized by impaired social relationships, impaired language and communication, and repetitive behaviors, or a narrow range of interests that appears in the first 3 years of life. Intellectual Disability (also known as developmental delay or formerly, mental retardation) is characterized by significantly sub-average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period (Miller et al. Am J Hum Genet 86:749-764, 2010).

Reference Range*

Interpretive report provided.

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

Test Limitations

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Test Details

Days Test Performed

Monday - Friday

Analytic Time

28 - 104 days

Soft Order Code

AUS

Synonyms

Laboratory

MMGL

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Specimen Requirements

Offsite Collection Instructions

Collect specimen in a lavender top tube. Send intact specimen within 24 hours if stored at room temperature or within 5 days if stored refrigerated. Include the patient's family history, pedigree, and ethnicity on the test requisition. Obtaining informed consent from the patient prior to genetic testing is strongly recommended. If desired, a UMHS Request and Consent for Genetic Testing form can be obtained from the MMGL Molecular Genetics Laboratory by contacting the MLabs Client Services Center at 800-862-7284 or online at https://mlabs.umich.edu/sites/default/files/2020-01/file/pci-mmgl_infor….

Container

Normal Volume

5 - 10 mL EDTA whole blood

Minimum Volume

5 EDTA whole blood

Additional Information

The Autism/ID Panel may be ordered as a single reflexive test (order code AUS). By ordering this test the clinician acknowledges that additional reflex testing will be performed and billed at a separate additional charge if indicated. Each Tier and each assay in the panel may also be ordered individually. Tier 1 (AUS1) includes: Chromosomal Microarray Analysis (SNPM1)(http://www.pathology.med.umich.edu/handbook/?testID=4760), Fragile X Syndrome Mutation Detection (FRXFA)(http://www.pathology.med.umich.edu/handbook/?testID=427), and Prader-Willi / Angelman Syndrome by PCR (PWSMP)(http://www.pathology.med.umich.edu/handbook/?testID=4814), which may detect the underlying genetic cause in 17-24% of ASD/ID cases (Miller et al. 2010; Miles et al. Genet Med 13:278-294, 2011; Kelleher et al. Cell 135:401-406, 2008). If no mutations are detected in Tier 1, then Tier 2 will be performed. Tier 2 (AUS2) includes: MECP2 and PTEN full gene sequencing and deletion / duplication analyses. Tier 2 may detect the underlying genetic cause in 5-20% cases of ASD/ID (Miles et al. 2011; Butler et al. J Med Genet 42:318-321, 2005; Varga et al. Genet Med 11:111-117, 2009). If no mutations are detected in Tier 2, then Tier 3 will be performed. Tier 3 (AUS3) includes full gene sequencing of nine genes that are associated with ASD/ID: UBE3A, MBD5, NLGN3, NLGN4X, SHANK2, SHANK3, SLC9A6, TCF4, and CDKL5. Tier 3 may detect up to 10% of the ASD/ID genetic causes (Kelleher et al. 2008; Talkowski et al. Am J Hum Genet 89:551-563, 2011; Leblond et al. PLoS Genet 8:e1002521, 2012; Gauthier et al. Am J Med Genet B Neuropsychiatr Genet 150B:421-424, 2009; Moessner et al. AM J Hum Genet 81:1289-1297, 2007). By ordering this test the clinician acknowledges that informed consent has been obtained from the patient as required by applicable state or federal laws and the ordering clinician has authorization from the patient permitting MLabs to report the test results to the ordering clinician. Test includes medical geneticist interpretation of results billed as a separate additional charge. This test is not available without interpretation.

Billing Information

Fee Codes

CPT Code

Tier1: SNPM1: 81229; FRXFA: 81244; PWSMP: 81331. Tier2: MECS: 81302; PTENS: 81321; MECD: 81304; PTED: 81323. Tier3: UBE3AS: 81406; MBD5S: 81406; NLGN3S: 81405; NLGN4S: 81405; SHANK2S: 81406; SHANK3S: 81406; SLC9A6S: 81406; TCF4S: 81406; CDKL5: 81406

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