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Testing Services-Sort by Gene

+ - ACADM Click to collapse
Comprehensive MCADD Sequencing Analysis


+ - BRAF Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - CBL Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - EPHB4 Click to collapse
CM-AVM/Parkes Weber analysis by NGS

+ - FMR1 Click to collapse
Fragile X analysis

+ - GNAS Click to collapse
McCune-Albright Syndrome Analysis by NGS


+ - HRAS Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)
HRAS Single Gene Analysis for Costello syndrome  


+ - KRAS Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)
Peripheral Nerve Sheath Tumor Panel by NGS


+ - LZTR1 Click to collapse
Peripheral Nerve Sheath Tumor Panel by NGS
Schwannomatosis/Multiple Schwannomas Panel by NGS
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - MAP2K1 Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)

+ - MAP2K2 Click to collapse
non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)



+ - NF1 Click to collapse
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1-only
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1/SPRED1 genes
Expanded NF1-RASopathy NGS panel (18 genes)
Peripheral Nerve Sheath Tumor Panel by NGS
RNA-based NF1/SPRED1 Testing on Cultured Cells from Affected Tissues
RNA-based NF1 and gDNA-based SPRED1 Analysis


+ - NF2 Click to collapse
NF2-only by NGS
Peripheral Nerve Sheath Tumor Panel by NGS
Schwannomatosis/Multiple Schwannomas Panel by NGS
Meningiomatosis/Multiple Meningiomas Panel by NGS


+ - NRAS Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - PKHD1 Click to collapse
PKHD1 Known Mutation Testing (KT2)
PKHD1 Known Mutation Prenatal Testing (PT2)
PKHD1 Linkage Analysis for Informativity & Prenatal Linkage


+ - PPP1CB Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - PTEN Click to collapse
PTEN Comprehensive Sequencing and Deletion/Duplication Analysis


+ - PTPN11 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)
Peripheral Nerve Sheath Tumor Panel by NGS


+ - RAF1 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)

+ - RASA1 Click to collapse
CM-AVM/Parkes Weber analysis by NGS


+ - RASA2 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)

+ - RIT1 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - SHOC2 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)

+ - SMARCA4 Click to collapse
Rhabdoid Tumor Predisposition Syndrome Panel by NGS

+ - SMARCB1 Click to collapse
Peripheral Nerve Sheath Tumor Panel by NGS
Rhabdoid Tumor Predisposition Syndrome Panel by NGS 
Schwannomatosis/Multiple Schwannomas Panel by NGS
Meningiomatosis/Multiple Meningiomas Panel by NGS


+ - SMARCE1 Click to collapse
Meningiomatosis/Multiple Meningiomas Panel by NGS


+ - SOS2 Click to collapse
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)


+ - SPRED1 Click to collapse
SPRED1 Single Gene Sequencing and Deletion/Duplication Analysis
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1/SPRED1 genes
Non-NF1 RASopathy NGS panel (17 genes)
Expanded NF1-RASopathy NGS panel (18 genes)
RNA-based NF1/SPRED1 Testing on Cultured Cells from Affected Tissues
RNA-based NF1 and gDNA-based SPRED1 Analysis


+ - SUFU Click to collapse
Meningiomatosis/Multiple Meningiomas Panel by NGS



+ - TSC1/TSC2 Click to collapse
Tuberous Sclerosis Complex Panel by NGS


+ - VHL Click to collapse
Comprehensive VHL Analysis