A total of 2 tubes needed; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube.
OR 6 cytobrushes OR Saliva (use Saliva collection kit). These order options do NOT apply if PTEN is ordered as part of the Neurodevelopmental Algorithm. For a free cytobrush or saliva collection kit, please call 513-636-4474.
Collection personnel MUST initial specimen container to confirm sample identity.
Minimum Collection Volume
A total of 2 tubes is needed for PTEN testing; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube.
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.
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)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.
Ordering Recommendations
This test can be used for clinical diagnosis of Autism Spectrum Disorder for patients with Autism / Intellectual Disabilities with Macrocephaly. Use the Pediatric/Adult requisition to order this test.
This test can ALSO be used for diagnosis of PTEN hamartoma tumor syndrome (PHTS) for patients with Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome 1, Lhermitte-Duclos syndrome, Proteus syndrome, or Proteus-like syndrome. Use the Oncology requisition to order this test.
for FULL Analysis: 81321
for Targeted/Known Analysis: 81403
Please call 1-866-450-4198 for pricing or with any billing questions.
Collection
Collect
A total of 2 tubes needed; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube.
OR 6 cytobrushes OR Saliva (use Saliva collection kit). These order options do NOT apply if PTEN is ordered as part of the Neurodevelopmental Algorithm. For a free cytobrush or saliva collection kit, please call 513-636-4474.
Collection personnel MUST initial specimen container to confirm sample identity.
Minimum Collection Volume
A total of 2 tubes is needed for PTEN testing; 3-4 mL of whole peripheral blood in Dark Green top Sodium Heparin tube AND 3-4 mL of whole peripheral blood in a Lavender top EDTA tube.
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.
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)
HOURS of OPERATION: 6 AM - 12 AM (Monday through Friday, with more limited hours on the weekend)
Unacceptable Conditions
No name on specimen container
If DNA is sent as a specimen for this assay, the DNA must have been extracted at a CLIA and/or CAP accredited laboratory.
Ordering
Ordering Recommendations
This test can be used for clinical diagnosis of Autism Spectrum Disorder for patients with Autism / Intellectual Disabilities with Macrocephaly. Use the Pediatric/Adult requisition to order this test.
This test can ALSO be used for diagnosis of PTEN hamartoma tumor syndrome (PHTS) for patients with Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome 1, Lhermitte-Duclos syndrome, Proteus syndrome, or Proteus-like syndrome. Use the Oncology requisition to order this test.
