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Neurofibromatosis NGS Panel
Panel Description
Diseases Targeted:
Neurofibromatosis Type 1
Neurofibromatosis Type 2
Legius Syndrome
Overview:
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.Who is this test for?
This panel may be appropriate for anyone with a personal or family history of either type of neurofibromatosis and its associated symptoms.What are the potential benefits for my patient?
Genetic testing can help confirm a diagnosis of NF1 or NF2. Both of these conditions have consensus management recommendations, allowing for optimal care.- 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
Print
Order Options:
Turnaround Time:
3-5 weeks
Cost:
Call for details
Genes:
NF1, NF2, SPRED1
( 3 genes )
Coverage:
96% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
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 Codes:
| CPT Code | 81404, 81405, 81406, 81408 |