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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Nuclear Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Confirmation of Clinical Diagnosis, Carrier testing
Test Details
Test Code: 2086
Special Notes: 162 nuclear genes involved in Mitochondrial disorders 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 the MitomeNGS panel may be ordered.

All exons of these 162 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 162 nuclear genes responsible for Mitochondrial disorder by Massively Parallel Sequencing (BCM-MitomeNGSSM) can also be ordered separately: AARS2, ACACA, ACACB, ACAD9, ACADL, ACADM, ACADVL, ACAT, ADCK3, AGL, ARG1, ATP5A1, ATP5E, ATPAF2, AUH, BCS1L, BTD, C10orf2, C12orf65, COQ2, COQ9, COX15, COX4I1, COX4I2, COX6B1, COX7A1, CPS1, CPT1A, CPT1B, CPT2, DARS2, DGUOK, DLAT, DLD, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FOXRED1, G6PC, GAA, GBE1, GFM1, GYS1, GYS2, HADHA, HADHB, HARS2, HLCS, ISCU, IVD, KARS, LARS2, LMBRD1, LPIN1, LRPPRC, MARS2, MCCC1, MCCC2, MMAA, MMAB, MMACHC, MMADHC, MPI, MPV17, MRPL40, MRPL44, MRPS16, MRPS18A, MRPS2, MRPS22, MRRF, MTFMT, MTRR, MUT, NAGS, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA13, NDUFA2, NDUFA7, NDUFA8, NDUFAF2, NDUFAF5, NDUFB6, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV3, NUBPL, OPA1, OPA3, OTC, PC, PCCA, PCCB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PFKM, PGAM2, PGM1, PHKA1, PHKA2, PHKB, PHKG2, PMM2, POLG, POLG2, PUS1, PYGL, PYGM, RARS2, RRM2B, SARS2, SCO1, SCO2, SDHAF1, SDHAF2, SDHB, SDHC, SLC22A5, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A3, SLC25A4, SLC37A4, SUCLA2, SUCLG1, SUCLG2, SURF1, TACO1, TAZ, TCN2, TFAM, TFB1M, TIMM8A, TK2, TMEM70, TOMM20, TRMU, TSFM, TUFM, TYMP, UQCRB, UQCRQ, and YARS2.
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: Please see "Special Notes" section for a list of genes.
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: Cultured Skin Fibroblasts
Requirements: Send 3 T25 flasks at 60-80% confluence. TAT may be extended by up to 3 wks. Flasks should be less than 3 wks of culture age.
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

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.

Specimen Type: Skeletal Muscle
Requirements: 50mg for Muscle
Shipping Conditions: Skeletal Muscle should be flash frozen in liquid nitrogen at collection with no media added, stored at -80C, and shipped by overnight courier on 3-5 lbs of dry ice.

Turn Around Time: 72 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81404x1, 81405x1, 81406x2, 81407x1

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