Neurofibromatosis 1 Sequencing

Neurofibromatosis (NF) is a genetic disorder of the nervous system that primarily affects the development and growth of neural (nerve) 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.

NF1 is inherited and is due to a mutation of the NF1 gene (in chromosome band 17q11) that encodes a protein called neurofibromin. Half of all cases are due to new mutations in the NF1 gene. Patients who are confirmed to not have a mutation of the NF1 gene are candidates for analysis of SPRED1.

Sequencing is the first tier test for this disorder. If no mutation is found we recommend FISH as the second tier test.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

 ICD-9 Code 237.71

Test Requisition: Sequencing Requisition

NF1 CPT Code: 81408 Cost: $1193.00

Turn-around-time for NF1: 5-6 weeks