Neurofibromatosis 1 (NF1)

We recommend sequencing as the first tier test with FISH as the second tier.

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. Neurofibromatosis (NF) consists of two very different disorders: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2).

Neurofibromatosis type 1: NF1, a genetic disorder 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 risk of malignant degeneration of neurofibromas is below 5 percent.

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. NF1 is also called von Recklinghausen disease.

Methodology: Fluorescent in Situ Hybridization (FISH) Analysis

Purpose: Confirmation of Clinical Diagnosis/Carrier Testing

ICD-9 Code 237.71

Test Requisition: Cytogenetics Requisition

CPT Codes for blood: 88230, 88271, 88274, 88291Cost: $655.00

CPT Codes for amnio: 88235, 88271, 88274, 88291 Cost: $765.00

Turn-around-time: 10-14 days