| Comprehensive Autism Panel - Male Specific
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| Test Details |
| Test Code: |
8100 |
| Test Includes: |
Acylcarnitine Analysis (#4300), Amino Acid Analysis (#4100), CMA - HR + SNP Screen (#8665), Plasma and Urine Creatine/Guanidinoacetate Determination (#4130 & #4260), FMR1 CGG Repeat (#6573), and Organic Acid Screen (#4200)
The individual tests will be reported as they become available. Tests will be reported individually and no comprehensive summary of the testing is provided.
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| Special Notes: |
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. This panel of test includes; Acylcarnitine Analysis (#4300), Amino Acid Analysis (#4100), CMA - HR + SNP Screen (#8665), Plasma and Urine Creatine/Guanidinoacetate Determination (#4130 & #4260), FMR1 CGG Repeat (#6573), and Organic Acid Screen (#4200)
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| Technical Information |
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| Methodology: |
Acylcarnitine Analysis (#4300):Tandem Mass Spectroscopy
Amino Acid Analysis (#4100):HPLC with Ninhydrin Reaction
CMA - HR + SNP Screen (#8665):Microarray
Plasma and Urine Creatine/Guanidinoacetate Determination (#4130 & #4260):Tandem Mass Spectroscopy
FMR1 CGG Repeat (#6573):Southern analysis for samples with large expansions
Organic Acid Screen (#4200):Gas Chromatography/Mass Spectrometry
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| Sample & Shipping Information |
| Test Requisition: |
Autism Testing |
| Specimen Type: |
Blood - EDTA [along with Blood - Heparin, Plasma, & Urine] |
| Requirements: |
Draw blood in an EDTA (purple-top) tube(s) and send 10 cc |
| Shipping Conditions: |
Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.
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| Specimen Type: |
Blood - Heparin [along with Blood - EDTA, Plasma, & Urine] |
| Requirements: |
Draw blood in a Heparin (green-top) tube(s) and send 3-5 cc |
| Shipping Conditions: |
Ship at room temperature in an insulated container by overnight courier to arrive within 36 hours of collection. Do not heat or freeze.
|
| Specimen Type: |
Plasma [along with Blood - Heparin, Blood - EDTA, & Urine] |
| Requirements: |
Draw blood in a Heparin (green-top) tube(s) and separate as soon as possible. Send 2 cc of plasma. Store the specimen frozen at -20C. |
| Shipping Conditions: |
Ship frozen on dry ice in an insulated container by overnight courier.
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| Specimen Type: |
Urine [along with Blood - Heparin, Blood - EDTA, & Plasma] |
| Requirements: |
Send 3-5 cc of a random urine. Do not add preservatives. Store the specimen frozen at -20C. |
| Shipping Conditions: |
Ship frozen on dry ice in an insulated container by overnight courier.
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