|
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
PTPN11 DNA Sequencing
Test Code39948
CPT Codes
81406<br>Restricted Client Code
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
8 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
6 mL
Instructions
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Note: Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable
Refrigerated: 10 days
Frozen: Unacceptable
Methodology
Sanger Sequencing
FDA Status
This test was developed and its analytical performance characteristics have been determined by Athena Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: As needed; Report available: 14-28 days
Reference Range
See Laboratory Report
Clinical Significance
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of PTPN11
Typical Presentation: Symptoms include: Short stature, cryptorchidism in males, cranio-facial features, congenital heart defects, developmental delay
Indications for testing: Suspicion or diagnosis of Noonan Syndrome on clinical grounds Family History of Noonan Syndrome
Typical Presentation: Symptoms include: Short stature, cryptorchidism in males, cranio-facial features, congenital heart defects, developmental delay
Indications for testing: Suspicion or diagnosis of Noonan Syndrome on clinical grounds Family History of Noonan Syndrome