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.

Collect

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes OR Saliva (use Saliva collection kit).

Collection personnel MUST initial specimen container to confirm sample identity.

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

Minimum Collection Volume

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

If a lesser volume of blood or saliva, 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.

Unacceptable Conditions

No name on specimen container

Storage/Transport Temperature

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

Specimen Preparation

Do not centrifuge (spin) tube

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)

Methodology

Sanger Sequencing

Reported

28 Days for FULL Sequencing

14 Days for Known / Targeted / Family Study

Synonyms

  • MUNC 13-4 GENE MUTATION ANALYSIS
  • FHL3: MUNC 13-4 GENE MUTATION ANALYSIS
  • IMMUNODEFICIENCY MUTATION ANALYSIS: MUNC 13-4
  • UNC13D (MUNC 13-4 GENE MUTATION ANALYSIS)
  • HLH: MUNC 13-4 GENE MUTATION ANALYSIS
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: MUNC 13-4 GENE MUTATION ANALYSIS
  • 559 - MUNC 13-4 GENE MUTATION ANALYSIS
  • 4772969 - MUNC 13-4 Known Mutation Analysis

Included in Test Panels

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS GENE SEQUENCING PANEL

CPT Codes

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

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

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.

Collection

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.

Collect

3 mL whole blood in lavender top (EDTA) OR 6 cytobrushes OR Saliva (use Saliva collection kit).

Collection personnel MUST initial specimen container to confirm sample identity.

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

Minimum Collection Volume

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

If a lesser volume of blood or saliva, 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.

Unacceptable Conditions

No name on specimen container

Storage/Transport Temperature

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

Specimen Preparation

Do not centrifuge (spin) tube

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)

Ordering

Methodology

Sanger Sequencing

Reported

28 Days for FULL Sequencing

14 Days for Known / Targeted / Family Study

Synonyms

  • MUNC 13-4 GENE MUTATION ANALYSIS
  • FHL3: MUNC 13-4 GENE MUTATION ANALYSIS
  • IMMUNODEFICIENCY MUTATION ANALYSIS: MUNC 13-4
  • UNC13D (MUNC 13-4 GENE MUTATION ANALYSIS)
  • HLH: MUNC 13-4 GENE MUTATION ANALYSIS
  • HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: MUNC 13-4 GENE MUTATION ANALYSIS
  • 559 - MUNC 13-4 GENE MUTATION ANALYSIS
  • 4772969 - MUNC 13-4 Known Mutation Analysis

Included in Test Panels

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS GENE SEQUENCING PANEL

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.

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.