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Houston, Texas

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Medical Genetics Test Details

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Progressive External Ophthalmoplegia - PEO Panel (8 gene panel by NGS) tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis PEO Deletion/Duplication Panel
Test Code: 2143
Next Generation Sequencing PEO Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Code: 2140
Next Generation Sequencing & Deletion/Duplication PEO Comprehensive Panel (Massively Parallel Sequencing and Deletion/Duplication Analysis)
Test Code: 2144


PEO Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The common clinical symptoms are weakness of the eye muscles causing ptosis and ophthalmoplegia. Some affected individuals may also have symptoms of muscle weakness. Progressive external ophthalmoplegia (PEO-NGS) panel is appropriate for patients suspected of having one of these clinical symptoms and/or mtDNA multiple deletions.
Test Details
Test Code: 2140
Special Notes: Eight nuclear encoded genes involved in the biogenesis of the mitochondrial genome and the maintenance of mtDNA integrity 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 using the individual test codes listed.

All exons of these 8 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 (MitomeNGS®) 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 8 genes responsible for progressive external ophthalmoplegia (PEO) by Massively Parallel Sequencing (MitomeNGS) can also be ordered separately: C10orf2 (#3175), MGME1 (#5055), OPA1 (#3465), OPA3 (#3525), POLG (#3065), POLG2(#3380), RRM2B (#3420), and SLC25A4 (#3170).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: C10orf2 (TWINKLE), MGME1, OPA1, OPA3, POLG, POLG2, RRM2B, SLC25A4(ANT1)
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.

Turn Around Time: 56 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81404x2, 81405x1, 81406x1, 81407x1, 81479x3


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