Collect

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.

Collection personnel MUST initial specimen container to confirm sample identity.

For a free cytobrush collection kit, please call 513-636-4474.

Minimum Collection Volume

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.

If a lesser volume of blood or a smaller number of cytobrushes is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

The laboratory can obtain results for this test using different specimen types. For best results, send one of the specimen type(s) listed above.  If only an alternate specimen type is available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.

If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.

Patient Preparation

Both FULL (complete gene analysis) and TARGETED or KNOWN (specific mutation) tests are available. Specify which type of testing you require on the requisition.  A copy of the proband's test report or the proband's name and date of birth (DOB), if the test was performed at CCHMC, is required for TARGETED/KNOWN analysis.

Specimen Preparation

Do not centrifuge (spin) tube

Storage/Transport Temperature

Store at room temperature  / Use overnight shipping (protect from temperature extremes, no ice)

Performing Lab

Molecular Genetics (513) 636-4474 / FAX: (513) 636-4373

HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Unacceptable Conditions

No name on specimen container

Synonyms

  • POLG1 Gene Sequencing
  • Alpers syndrome (POLG1 Gene Sequencing)
  • MEMSA-Myoclonic epilepsy, myopathy and sensory ataxia (POLG1 Gene Sequencing)
  • AHS-Alpers Huttenlocher syndrome (POLG1 Gene Sequencing)
  • MCHS-Childhood mycerebrohepatopathy spectrum (POLG1 Gene Sequencing)
  • ANS-Ataxia neuropathy syndrome (POLG1 Gene Sequencing)
  • arPEO-Autosomal recessive progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • adPEO-Autosomal dominant progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • CPEO+ (POLG1 Gene Sequencing)
  • SCAE-Spinocerebellar ataxia with epilepsy (POLG1 Gene Sequencing)
  • Chronic progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • Mitochondrial DNA polymerase gamma (POLG1 Gene Sequencing)
  • MIRAS-Mitochondrial recessive ataxia syndrome (POLG1 Gene Sequencing)
  • SANDO-Sensory ataxia neuropathy dysarthria and ophthalmoplegia (POLG1 Gene Sequencing)
  • MITOCHONDRIAL DISORDERS (POLG1 GENE SEQUENCING ANALYSIS)
  • 1162 - POLG1 GENE SEQUENCING ANALYSIS
  • 7217927 - POLG1 Known Gene Analysis

Methodology

Sanger Sequencing

Reported

28 Days for FULL Sequencing

14 Days for Known / Targeted / Family Study

CPT Codes

for FULL Analysis: 81406
for Targeted/Known Analysis: 81403

Please call 1-866-450-4198 for pricing or with any billing questions.

Collection

Collect

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.

Collection personnel MUST initial specimen container to confirm sample identity.

For a free cytobrush collection kit, please call 513-636-4474.

Minimum Collection Volume

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes.

If a lesser volume of blood or a smaller number of cytobrushes is sent, the laboratory will attempt to perform the test requested.  The laboratory cannot assure either a result and/or the ability to perform repeat testing and/or additional testing if the minimum volumes are not met.

Acceptable Specimen Collect Alternatives

The laboratory can obtain results for this test using different specimen types. For best results, send one of the specimen type(s) listed above.  If only an alternate specimen type is available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.

If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.

Patient Preparation

Both FULL (complete gene analysis) and TARGETED or KNOWN (specific mutation) tests are available. Specify which type of testing you require on the requisition.  A copy of the proband's test report or the proband's name and date of birth (DOB), if the test was performed at CCHMC, is required for TARGETED/KNOWN analysis.

Specimen Preparation

Do not centrifuge (spin) tube

Storage/Transport Temperature

Store at room temperature  / Use overnight shipping (protect from temperature extremes, no ice)

Performing Lab

Molecular Genetics (513) 636-4474 / FAX: (513) 636-4373

HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)

Unacceptable Conditions

No name on specimen container

Ordering

Synonyms

  • POLG1 Gene Sequencing
  • Alpers syndrome (POLG1 Gene Sequencing)
  • MEMSA-Myoclonic epilepsy, myopathy and sensory ataxia (POLG1 Gene Sequencing)
  • AHS-Alpers Huttenlocher syndrome (POLG1 Gene Sequencing)
  • MCHS-Childhood mycerebrohepatopathy spectrum (POLG1 Gene Sequencing)
  • ANS-Ataxia neuropathy syndrome (POLG1 Gene Sequencing)
  • arPEO-Autosomal recessive progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • adPEO-Autosomal dominant progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • CPEO+ (POLG1 Gene Sequencing)
  • SCAE-Spinocerebellar ataxia with epilepsy (POLG1 Gene Sequencing)
  • Chronic progressive external ophthalmoplegia (POLG1 Gene Sequencing)
  • Mitochondrial DNA polymerase gamma (POLG1 Gene Sequencing)
  • MIRAS-Mitochondrial recessive ataxia syndrome (POLG1 Gene Sequencing)
  • SANDO-Sensory ataxia neuropathy dysarthria and ophthalmoplegia (POLG1 Gene Sequencing)
  • MITOCHONDRIAL DISORDERS (POLG1 GENE SEQUENCING ANALYSIS)
  • 1162 - POLG1 GENE SEQUENCING ANALYSIS
  • 7217927 - POLG1 Known Gene Analysis

Methodology

Sanger Sequencing

Reported

28 Days for FULL Sequencing

14 Days for Known / Targeted / Family Study

Result Interpretation
Laboratory Personnel Use

CPT Codes

for FULL Analysis: 81406
for Targeted/Known Analysis: 81403

Please call 1-866-450-4198 for pricing or with any billing questions.