Collect

3 mL Whole Blood or Bone Marrow in Lavender top tube (EDTA).

or

1 cm2 tissue/tumor sample or Formalin-fixed, paraffin-embedded (FFPE) tissue sample section.

 

Collection personnel MUST initial specimen container to confirm sample identity.

Minimum Collection Volume

3 mL whole blood or bone marrow in lavender top (EDTA).  1 cm2 formalin-fixed, paraffin-embedded (FFPE) tissue sample or fresh tissue.

If a lesser volume of blood, bone marrow or tissue 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 typeis available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.

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

  • cardio-facio-cutaneous syndrome (MAP2K1 Gene Seq)
  • CFC3 (MAP2K1 Gene Seq)
  • Costello syndrome (MAP2K1 Gene Seq)
  • hypertrophic cardiomyopathy (MAP2K1 Gene Seq)
  • Langerhans cell histiocytosis (MAP2K1 Gene Seq)
  • MAPKK1 (MAP2K1 Gene Seq)
  • MEK1 (MAP2K1 Gene Seq)
  • MKK1 (MAP2K1 Gene Seq)
  • Noonan syndrome (MAP2K1 Gene Seq)
  • PRKMK1 (MAP2K1 Gene Seq)
  • 1239 - MAP2K1 Gene Sequencing
  • 7851345 - MAP2K1 Known Mutation Analysis

Methodology

Sanger sequencing

Reported

28 Days for FULL Sequencing

14 Days for Known / Targeted / Family Study

CPT Codes

for FULL Analysis: 81479
for Targeted/Known Analysis: 81479

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

Collection

Collect

3 mL Whole Blood or Bone Marrow in Lavender top tube (EDTA).

or

1 cm2 tissue/tumor sample or Formalin-fixed, paraffin-embedded (FFPE) tissue sample section.

 

Collection personnel MUST initial specimen container to confirm sample identity.

Minimum Collection Volume

3 mL whole blood or bone marrow in lavender top (EDTA).  1 cm2 formalin-fixed, paraffin-embedded (FFPE) tissue sample or fresh tissue.

If a lesser volume of blood, bone marrow or tissue 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 typeis available, please call the laboratory at (513) 636-4474 for more information on how to obtain and/or handle any alternate specimen types.

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

  • cardio-facio-cutaneous syndrome (MAP2K1 Gene Seq)
  • CFC3 (MAP2K1 Gene Seq)
  • Costello syndrome (MAP2K1 Gene Seq)
  • hypertrophic cardiomyopathy (MAP2K1 Gene Seq)
  • Langerhans cell histiocytosis (MAP2K1 Gene Seq)
  • MAPKK1 (MAP2K1 Gene Seq)
  • MEK1 (MAP2K1 Gene Seq)
  • MKK1 (MAP2K1 Gene Seq)
  • Noonan syndrome (MAP2K1 Gene Seq)
  • PRKMK1 (MAP2K1 Gene Seq)
  • 1239 - MAP2K1 Gene Sequencing
  • 7851345 - MAP2K1 Known Mutation 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: 81479
for Targeted/Known Analysis: 81479

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