Neurofibromatosis NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Neurofibromatosis Type 1
Neurofibromatosis Type 2
Legius Syndrome

Neurofibromatosis is a multi-system disorder that affects the way cells form and grow, resulting in benign tumors, particularly on nerve cells, and a variety of cutaneous findings. The two most common types are neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is one of the most common autosomal dominant disorders and is characterized by café-au-lait spots on the skin, neurofibromas on or under the skin, and risk for optic gliomas and other ocular findings. Some children also have learning disabilities. Osseous lesions, such as tibial pseudoarthrosis or sphenoid dysplasia may also be present.

NF2 is rarer and symptoms may go unnoticed until adulthood. It is primarily recognized by the development of vestibular schwannomas which may lead to hearing loss, tinnitus, and balance issues. People with NF2 may also develop meningiomas, gliomas, neurofibromas, or cataracts in the form of subcapsular lenticular opacities or cortical wedge cataracts. Children may present with skin plaques.

In addition to NF1 and NF2, this panel includes SPRED1, associated with Legius syndrome, a condition with a phenotype overlapping NF1 with fewer tumor manifestations.

This panel may be appropriate for anyone with a personal or family history of either type of neurofibromatosis and its associated symptoms.

Genetic testing can help confirm a diagnosis of NF1 or NF2. Both of these conditions have consensus management recommendations, allowing for optimal care.

Genetic testing for neurofibromatosis can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional health-related symptoms
  • Assist in modifying lifestyle changes
  • Result in more personalized treatment and symptom management
  • Inform family members about their own risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

Test Description

  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
NF1, NF2, SPRED1 ( 3 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

CPT Code 81404, 81405, 81406, 81408

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.