Neurofibromatosis 1 

Neurofibromatosis 1 (NF1) is one of the most common neurogenetic conditions, affecting about 100,000 children and adults in the U.S.1,2 The most common sign is pigmented skin lesions called café-au-lait macules. People with NF1 can also develop tumors in the brain and along the nerves.
Quick Reference
Test Code: 5704 Test Name: NF1 seq and del/dup TAT 14-21 days Gene: 1
Test Code: 5730 Test Name: NF1 reflex SPRED1 TAT 2-5 weeks Genes: 2

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Mutation Detection Rate

This test can detect ~65% of described mutations in the gene, when present (analytic sensitivity).

Test Description

NF1 coding exons 1-58 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons 1-58. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of NF1 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.


1. Lammert M, et al. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005;141:71–74.
2. Evans DG, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010;152A:327–332.
3. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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