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Neurofibromatosis 1 & 2

 

Neurofibromatosis Type 1 is a genetic disorder of the nervous system that primarily affects the development and growth of neural cell tissues, causes tumors to grow on nerves, and may produce other abnormalities. NF1 is characterized by a number of remarkable skin findings including multiple café au lait spots, multiple benign tumors on the skin, plexiform neurofibromas, and freckles in the armpit and groin. In NF1 there is an increased risk of scoliosis, optic gliomas (benign tumors on the optic nerve), epilepsy, and learning disability. The NIH has established diagnostic critieria for NF1, click on the link to review.

Neurofibromatosis Type 2 is an inherited disease. The main manifestation of the disease is the development of symmetric, non-malignant brain tumors in the region of the cranial nerve VIII, which is the auditory-vestibular nerve that transmits sensory information from the inner ear to the brain. Most people with this condition also experience visual problems. NF2 is caused by mutations of the "Merlin" gene which seems to influence the form and movement of cells. The principal treatments consist of neurosurgical removal of the tumors and surgical treatment of the eye lesions. The underlying disorder does not have any therapy due to the cell function caused by the genetic mutation.

OMIM Gene/Protein Description
162200 NF1/neurofibroma Incidence of NF1 estimated at 1 in 3000. Half of all cases due to new mutations of NF1. Patients who are confirmed to not have a mutation of the NF1 gene are candidates for analysis of SPRED1.
101000 NF2/Merlin

Incidence of neurofibromatosis type II is 1 in 25,000 live births.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

NF1 ICD-10 Code Q85.01

NF2 ICD-10 Code: Q85.02

Test Requisition: Sequencing Requisition

NF1 CPT Code: 81408 Cost: $1320.00 If negative option to sequence SPRED1 gene.

NF2 CPT Code: 81406 Cost: $1210.00

Turn-around-time for each test: 5-6 weeks

Specimen Requirements

Shipping Information

References

1. National Institutes of Health Consensus Development Conference. (1988) “Neurofibromatosis: conference statement”. Arch. Neurol. 45: 575-578.

2. Bausch, B., Borozdin, W., Neumann, H. P. H. (2006) “Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma”. New Eng. J. Med. 354: 2729-2731.

3. Asthagiri, A. R., Parry, D. M., Butman, J. A., Kim, H. J., Tsilou, E. T., Zhuang, Z., Lonser, R. (2009) “Neurofibromatosis type 2”. Lancet 373: 1974-1986.

4. Baser, M. E., Friedman, J. M., Wallace, A. J., Ramsden, R. T., Joe, H., Evans, D. G. R. (2002) “Evaluation of clinical diagnostic criteria for neurofibromatosis 2”. Neurology 59: 1759-1769.

5. DeBella K, Szudek J, Friedman JM (2000) “Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children”. Pediatrics. 105: 608-14.

       


 


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University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li
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