Medical Genetics Test Details
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| Leigh Disease Panel by Massively Parallel Sequencing (BCM-NGSSM) | ||
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| Test Information: | Confirmation of Clinical Diagnosis, Carrier Testing and Differential Diagnosis | |
| Test Details | ||
| Test Code: | 20601 | |
| Special Notes: | The following genes are included in this panel: AARS2, ACAD9, ADCK3, APTX, ATP5E, ATPAF2, BCS1L, C10orf2, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER (by Sanger), GFM1, LARS2, LMBRD1, LRPPRC, MPV17, MRPS16, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, RARS2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHB, SDHC, SDHD, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TRMU, TSFM, TTC19, TUFM, TUSC3, TYMP, UQCRB, UQCRQ and YARS2. | |
| Technical Information | ||
| Methodology: | Targeted Capture followed by Massively Parallel Sequencing | |
| Gene Name: | Please see "Test Includes" section. | |
| Test Type: | Next Generation Sequencing | |
| Sample & Shipping Information | ||
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| Test Requisition: | Mitochondrial | |
| Specimen Type: | Blood | |
| Requirements: | Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children). | |
| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. Sample must arrive within 48 hrs. |
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| Specimen Type: | Purified DNA | |
| Requirements: | Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7). | |
| Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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| Turn Around Time: | 72 days | |
| Billing Information | ||
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| List Price: | *For Insurance or Institutional Prices, please call. | |
| CPT Codes: | 81404 x 8, 81405 x 19, 81406 x 8 | |