Medical Genetics Test Details
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|Dual Genome Leigh Disease Panel by Massively Parallel Sequencing|
|Test Information:||Confirmation of Clinical Diagnosis, Carrier Testing and Differential Diagnosis|
82 nuclear and 37 mitochondrial genes involved in Leigh Disease are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of this NGS panel may be ordered.
All exons of these 119 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (BCM-MitomeNGSSM) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing. Sequence analysis for each of the 82 nuclear genes responsible for Mitochondrial disorder by Massively Parallel Sequencing (BCM-MitomeNGSSM) can also be ordered separately:
AARS2, ACAD9, ADCK3, APTX, ATP5E , ATPAF2 (ATP12), BCS1L, C10ORF2, COQ2, COQ9, COX10, COX15, COX4I2, COX6B1, DARS2, DGUOK, DLAT, DLD, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, 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.
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Sample & Shipping Information|
|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.
|Turn Around Time:||72 days|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81401 x 5, 81403 x2, 81404 x 7, 81405 x 17, 81406 x 11|