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 | |
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Deletion/Duplication Analysis |
![]() Test Code: 5033 |
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Sequence & Deletion/Duplication Analysis |
![]() Test Code: 5034 |
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Sequence Analysis |
![]() Test Code: 5030 |
![]() Test Code: 5031 This test can only be performed if there is a previously identified familial mutation. |
![]() 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 | ||
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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 | ||
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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 | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81479 x 1 |