Medical Genetics Test Details
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Glycine Encephalopathy tests available.
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| Diagnostic Testing | Familial Mutation/Variant Analysis | Mutation Testing General Population | Prenatal Diagnosis | Presymptomatic Testing | |
|---|---|---|---|---|---|
| Deletion/Duplication Analysis |
 AMT Deletion/Duplication AnalysisTest Code: 5033 |
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| Sequence & Deletion/Duplication Analysis |
 AMT Comprehensive - Sequence & Deletion/Duplication AnalysisTest Code: 5034 |
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| Sequence Analysis |
AMT Sequence Analysis Test Code: 5030 |
AMT Sequence Analysis Test Code: 5031 This test can only be performed if there is a previously identified familial mutation. |
AMT Sequence Analysis Test Code: 5032 We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363. |
| AMT Deletion/Duplication Analysis | ||
|---|---|---|
| Test Information: | Confirmation of Clinical Diagnosis, Carrier Testing | |
| Test Details | ||
| Test Code: | 5033 | |
| Technical Information | ||
| Methodology: | Deletion/duplication analysis performed using a custom designed gene centric microarray. | |
| Gene Name: | AMT | |
| Protein Name: | Aminomethyltransferase, mitochondrial precursor | |
| Test Type: | Deletion/Duplication Analysis | |
| Sample & Shipping Information | ||
|---|---|---|
| Test Requisition: | Molecular Diagnostics | |
| Specimen Type: | Blood | |
| Requirements: | Draw blood in an EDTA (purple-top) tubes and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs). | |
| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
|
| Turn Around Time: | 28 days | |
| Billing Information | ||
|---|---|---|
| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81479 x 1 | |