Medical Genetics Test Details

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Leigh Disease Panel by Massively Parallel Sequencing (BCM-NGS^SM)
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, COX4I1, COX4I2, COX6B1, COX7A1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER (by Sanger), GFM1, LARS2, LMBRD1, LRPPRC, MPV17, MRPS16, MTFMT, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, POLG, RARS2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TK2, TMEM70, TOMM20, 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
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.
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.

Billing Information
Turn Around Time:	72 days
List Price:	*For Insurance or Institutional Prices, please call.
CPT Codes:	81404 x 8, 81405 x 19, 81406 x 8