Medical Genetics Test Details
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|Mitochondrial Respiratory Chain Complex I-V Nuclear Gene Deficiency Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)|
|Test Information:||Mitochondrial respiratory chain contains 5 complexes, e.g. complex I, II, III, IV and V, which plays a critical role for generating ATP. Dysfunction of mitochondrial respiratory chain may cause a group of heterogeneous disorders with a variety of clinical presentations. Mostly involved is neural-muscle system. 2) This panel analyzes the sequence of 50 genes reported to be involved in the normal functioning of those complexes. Every nucleotide in the coding exons and immediate intronic sequences adjacent to intron-exon border will be examined. It is a diagnostic test for patients suspected with deficiency in any one of the five complexes, or combined deficiency with no clinical findings suggesting particular complex.|
All exons of these 50 genes are examined by NGS and Sanger Sequencing. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (MitomeNGS) will not detect genomic structural rearrangements (eg. deletions, duplications, inversions, etc.), large insertion mutations (e.g. ALU mediated insertion, etc), mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.
Sequence Analysis for the 50 genes in the Mitochondrial Respiratory Chain Complex I - V Deficiency Panel by Massively Parallel Sequencing (MitomeNGS) can be ordered separately: ATPAF2 (ATP12) (#3270), ATP5E (#3290), BCS1L (#3110), C20ORF7(#2655),COX10 (#3100), COX15 (#3545), COX4I1 (#2730), COX4I2 (#2735), COX6B1 (#3625), COX7A1 (#2740), FASTKD2 (#3555), FOXRED1 (#2660), LRPPRC (#3240), NDUFA1 (#3485), NDUFA2 (#2665), NDUFA7 (#3260), NDUFA8 (#2670), NDUFA10 (#2675), NDUFA11 (#2680), NDUFA13 (#2685), NDUFAF1 (#3940), NDUFAF2 (#3535), NDUFAF3 (#2690), NDUFAF4 (#3480), NDUFB6 (#2500), NDUFS1 (#2700), NDUFS2 (#3930), NDUFS3 (#3570), NDUFS4 (#3560), NDUFS5 (#3250), NDUFS6 (#3565), NDUFS7 (#3605), NDUFS8 (#3845), NDUFV1 (#3590), NDUFV3 (#2705), NUBPL (#2710), SCO1 (#3095), SCO2 (#3090),SDHA (#3180), SDHB (93185), SDHC (93190), SDHD (93195), SDHAF1 (#3675), SDHAF2 (#3230), SURF1 (#3085), TACO1 (#2745), TMEM70 (#3735), TTC19 (#2715), UQCRB (#2720), and UQCRQ (#2725).
|Methodology:||Targeted Capture followed by Massively Parallel Sequencing|
|Gene Name:||Please see "Test Details" section for a list of genes.|
|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:||56 days|
|List Price:||$5,100.00 *Institutional discounts may apply, please call.|
|CPT Codes:||81404x1, 81405x2|