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GTR Home > Tests > Non-NF1 RASopathy NGS Panel


Test order codeHelp: NNP-NG

Test name


Non-NF1 RASopathy NGS Panel (NNP-NG)

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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How to order


Additional information regarding the specific details needed for test submission can be found on our website
Order URL Help: http://www.genetics.uab.edu/medgenomics

Specimen source

Cord blood
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood


Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
  • Applied Biosystems 3730 capillary sequencing instrument
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Other

Summary of what is tested

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Clinical utility


Establish or confirm diagnosis

Clinical validity


Not provided

Testing strategy


The Non-NF1 Rasopathy panel by NGS involves the simultaneous sequencing of 17 genes: SPRED1, PTPN11, PPP1CB, BRAF, CBL, HRAS, KRAS, LZTR1, NRAS, MAP2K1, MAP2K2, RAF1, RIT1, RASA2, SHOC2, SOS1 and SOS2. The test uses a customized and optimized set of Agilent Haloplex capture probes, followed by sequencing of overlapping amplicons within the regions of interest using Illumina sequencing chemistry. Each coding exon plus ~50bp of flanking intronic sequence are simultaneously sequenced. 5’ and 3’ untranslated sequences are not included. The average coverage is >2000x with >98.5% of the coding region ≥350x and 99.3% ≥200x, allowing detection of very low-level mosaicism, down to 3-5% variant allele fraction respectively (regions covered by ≥350x respectively ≥200x) with 95% confidence. The minimum coverage for any additional areas is >30x. Variant and copy number calls are made using a unique bioinformatics pipeline detecting all types of mutations including single nucleotide substitutions, indels, and frameshifts caused by deletion/ duplication up to 112bp. Deletion/duplication analysis for LZTR1 and SPRED1 is included in this test, as such mutations are a part of the mutation spectrum for these conditions. Deletion/duplication analysis for the other 15 genes on this panel is not offered as current empirical and biological evidence is not sufficient to allow the conclusion that an altered copy number of these genes is a mechanism critical for the phenotype associated with the Rasopathies. Nevertheless, deletion/duplication analysis through aCGH analysis can be offered as a reflex test through the UAB cytogenetic laboratory (directed by Drs. A. Carroll and F. Mikhail). Relevant family members of a proband with any (novel or previously identified) variant of unknown significance are offered free of charge targeted analysis as long as accurate phenotypic data are provided by a health care professional to enhance the interpretation. There is no limitation to the number of relatives that can be tested free of charge. 000 Additional information regarding the specific details needed for test submission can be found on our website

Test services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Result interpretation

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