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 #

Neurofibromatosis Type 2 (NF2) Evaluation - Athena #645

Message
This test is currently only available in BHS CPRS. If you are a Bedford provider and wish to see this test offered in Bedford CPRS- please contact the Bedford Laboratory.


Test Code
NEUROFIBROMATOSIS TYPE 2(ATH#645)


Includes
Genes Included: NF2, NF2 Dup/Del

Tests included:
Neurofibromatosis Type 2 DNA Sequencing Test



Preferred Specimen
Whole blood - Lavender EDTA - 3 tubes


Minimum Volume
Preferred: 8 mL
Minimum: 6 mL


Transport Temperature
Room temperature. Avoid freezing.


Specimen Stability
Room temperature: 10 days
Refrigerated: 10 days
Frozen: Unacceptable


Methodology
Sanger Sequencing, Multiplex Ligation-dependent Probe Amplification (MLPA)

Report Available
28 - 42 days


Reference Range
Provided with patient report in CPRS.


Clinical Significance
Type of disorder: Neuro-Oncology

Typical presentation: Neurofibromatosis Type 2 is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss and balance dysfunction.

Indications for testing: Confirm NF2 in patients with family history; confirm cases of NF2 in families with suspected mosaic cases; confirm cases in patients who do not meet any diagnostic criteria; family screening

Disease(s) tested for: Neurofibromatosis Type 2

Utility: Detects duplication and deletion mutations in the NF2 gene


Performing Laboratory
Athena Diagnostics, Inc.
200 Forest Street, 2nd Floor
Marlborough, MA 01752

Additional Information
Link to Athena Diagnostics test catalog

Last Updated: December 18, 2015


The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.