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Test Code NF2 DNA Neurofibromatosis Type 2 DNA Test

Clinical System Name

Neurofibromatosis Type 2 DNA Test

Description

Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.

 

 

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA

Preferred Vol: 10 mL

Minimum Vol: 3 mL

 

Notes: Draw Monday - Wednesday, or Thursday before 1400. Deliver to the Lab immediately.

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:

Minimum Vol:

 

Notes: Extracted DNA is acceptable.  Contact reference lab for quantity information.

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: RT

Storage location: Store sample in the send-outs room temperature box. Place a copy of the requisition and extra labels in the clear plastic box attached to the CPA refrigerator.

 

Off-site collection: No off-site collection.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 21-28 d

 

Performing Laboratory

U of Alabama Health Services Foundation

Department

Department:  U of Alabama Health Services Foundation, Medical Genomics Laboratory, 720 South Twentieth St, Suite 420, Birmingham, AL 35294-0024

Phone Number: (205) 934-5562

Reference Range

Interpretive report is provided.

Methodology

Method: Direct sequencing & MLPA.

Analytical Volume:

Limitations:

Special Instructions

Links to:

 

UAB Medical Genomics Laboratory

 

UAB NF2 Requisitions

Send Out Instructions

Reference Test Name: Neurofibromatosis Type 2, Comprehensive Test
Reference Test Number: None specified.
Instructions:

Do not freeze or refrigerate. Ship overnight via FedEx. Include test request form, phenotypic checklist, and informed consent (forms available at http://www.genetics.uab.edu/medgenomics/index.htm). Keep a copy of the completed forms and the airbill for our files.

Friday shipment: call the lab (prior to Friday at 2:00 CST) at (205)-934-5562 before shipping the sample in order to arrange for a Saturday delivery. Ship the package via FedEx priority overnight at room temperature to: This package must be marked “Hold Saturday at FedEX Location” as well as “SATURDAY Delivery”, call the lab at (205)-934-5562 with the tracking information. Saturday Address:

UAB Medical Genomics Laboratory

C/O FedEX                    

320 Snow Drive

Homewood, AL  35209