COMPREHENSIVE AUTISM TESTING


In 2008, the American College of Medical Genetics published a Practice Guideline designed to assist clinicians with a logical approach to the genetic evaluation of patients diagnosed with autism and autism spectrum disorders (ASD) ( DOI: 10.1097/GIM.0b013e3186b5cc9).

Based on these recommendations the Medical Genetics Laboratories have developed a panel of tests to provide the physician with a comprehensive genetic workup for appropriate patients with ASD to obtain information about the etiology and to provide appropriate medical management as well as genetic counseling to the family.

Autism Panels Available:

  • 8100 - Male Specific Comprehensive Autism Panel
    Chromosomal Microarray Analysis; FMR1-Related Disorders Trinucleotide Repeat Analysis; Biochemistry 6-Plex*
  • 8110 - Female Specific Comprehensive Autism Panel
    Chromosomal Microarray Analysis; FMR1-Related Disorders Trinucleotide Repeat Analysis; Biochemistry 6-Plex*; MECP2-Related Disorders Sequencing and Deletion/Duplication Analysis

Biochemical Panel Available:

  • 4000- Biochemical 6-Plex*
    Plasma: Amino Acids Analysis; Creatine/Guanidinoacetate Determination; Acylcarnitine Analysis
    Urine: Organic Acid Screen; Creatine/Guanidinoacetate Determination; Purine Profile

Individual Tests Available:

Over 30 individual tests (molecular; cytogenetic; biochemical and mitochondrial) are available to be ordered for patients requiring a more tailored genetic evaluation. Please see full listing on the AUTISM TESTING REQUISITION

Reasons for Referral:

  • Determination of the genetic etiology of clinical diagnosis of ASD.

Testing Methodology:

DNA sequencing; comparative genomic hybridization; tandem mass spectroscopy; and gas chromatography/mass spectroscopy.

Specimen Requirements:

Blood: EDTA (purple-top) tubes: 10cc
Blood: Heparin (green-top) tubes: 3-5ml
Plasma: Heparin (green-top) tubes: Separate plasma and ship 2 cc
Urine: Do not use preservatives; send 3-5 cc

Ship specimens at ambient temperature in an insulated container to arrive within 36 hours of collection.

Special Note:
Tests will be reported individually and no comprehensive summary of the testing is provided.

Turnaround Time:

Panels: 21 days
Individual Tests: Variable

Shipping and Handling:

Medical Genetics Laboratories
GRAND BLVD. RECEIVING DOCK
2450 HOLCOMBE BLVD.
Houston , TX 77021

Prepaid shipping kits are available upon request: Please call MGL at 1-800-411-GENE (4363).

CPT Codes:

For information on fees or CPT Codes for Prenatal CMA, please contact our Billing Office at 713-798-3295. Please contact our genetic counselors at 1-800-411-4363 prior to prenatal sample submission.

Forms:

>> Autism Testing Requisition

Educational and Marketing Material:

>> Autism Genetic Testing

Test Codes:

Male Specific Comprehensive Autism Panel: 8100
Female Specific Comprehensive Autism Panel: 8110
Biochemical 6-Plex*: 4000