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GTR Home > Tests > Noonan Spectrum Disorders/Rasopathies



Molecular Genetics
DDeletion/duplication analysis
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NextSeq 500

Test comments


NGS panel covers the analysis of the entire coding region of the following genes: A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1, KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2, NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBX1. CNV analysis is included in the panel.

Test development


Not provided

Confirmation of results


Likely pathogenic/pathogenic findings are confirmed using another technology.

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