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Autism/Cognitive Impairment Panel

Testing Methods and Analysis

Genetics Center’s Autism/Cognitive Impairment Multigene Panel is a molecular diagnostic test performed by next generation sequencing to evaluate 46 essential genes known to be associated with a predisposition towards autism spectrum disorder or cognitive impairment/developmental delay/disability.

Testing Purposes

  • Knowledge of an underlying genetic condition in a patient is essential in providing appropriate medical management and long term prognosis as well as recurrence risks.
  • This is a diagnostic test for cognitive impairment/developmental delay/disability.
  • This testing could be utilized as a second tier test in a patient with a diagnosis of severe autism and previously normal chromosomal microarray and fragile X DNA analysis.
  • This diagnostic test is for a patient/family with severe autism (i.e. a strong family history of autism) and otherwise negative genetic work-up to date.
  • Many of the genes tested would not be diagnosable/detectable on clinical examination alone, which indicates the importance of molecular testing in diagnosis of our patients.

Diagnostic Testing Goals

Accurate, rapid assessment of 46 genes to identify a diagnosis for a patient and family in order to provide:

  • Appropriate medical management.
  • Recurrence risks to parents considering future family planning.
  • Reduce the need for further genetic work-up/testing (i.e. may avoid exome sequencing in certain cases).
  • Identification of a pathogenic variant in several of the genes on this autism panel (SCN1A, SCN2A, TSC1, TSC2, UBE3A) may also indicate that a patient may be at a higher risk for seizures in which an early diagnosis would provide preventative options and earlier assessment

Testing Methods

Next Generation Sequencing and Deletion/Duplication Analysis of the following genes:

ANKRD11, AUTS2, CACNA1A, CDKL5, CHD2, CHD7, CHD8, CNTNAP2, CREBBP, DHCR7, DYRK1A, EHMT1, FMR1, FOXG1, FOXP1, GRIA3, GRIN2B, HDAC8, MBD5, MECP2, MED12, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, PCDH19, POGZ, PQBP1, PTCHD1, PTEN, RAB39B, RAD21, RAI1, SCN1A, SCN2A, SHANK3, SLC9A6, SMC1A, SMC3, TBR1, TSC1, TSC2, UBE3A, UPF3B,and ZEB2

Specimen Requirements and Shipping/Handling

For Blood Samples

A single tube with 1-5 mL whole blood in EDTA (lavender top).

For Saliva Samples

Please contact us for collection kit

Send Specimen(s) to:

Genetics Center
211. S Main Street
Suite AA
Orange, CA 92868
Tel: (714)288-3500

 

CPT Codes

81404x4, 81405x10, 81406x8, 81407x4, 81479x61, 81185, 81302, 81304, 81321, 81323