{slide=Autosomal Recessive Polycystic Kidney Disease}PKHD1 Known Mutation Testing (KT2)
PKHD1 Known Mutation Prenatal Testing (PT2)
PKHD1 Linkage Analysis for Informativity & Prenatal Linkage
{/slide}
{slide=Capillary/Arteriovenous Malformation syndrome/Parkes Weber syndrome}RASA1 Analysis by NGS
{/slide}
{slide=Costello syndrome}Non-NF1 RASopathy NGS panel (16 genes)
Expanded NF1-RASopathy NGS panel (17 genes)
HRAS Single Gene Analysis for Costello Syndrome
{/slide}
{slide=Fragile X}Fragile X Analysis
{/slide}
{slide=Legius syndrome}SPRED1 Single Gene Sequencing and Deletion/Duplication Analysis 
Next-Gen Sequencing and Deletion/Duplication Analysis of NF1/SPRED1 genes
Expanded NF1-RASopathy NGS panel (17 genes)
RNA-based NF1/SPRED1 Testing on Cultured Cells from Affected Tissues
RNA-based NF1 and gDNA-based SPRED1 Analysis
{/slide}
{slide=Medium Chain Acyl-CoA Dehydrogenase Deficiency(MCADD)}Comprehensive MCADD Sequencing Analysis
{/slide}
{slide=Meningiomatosis}Peripheral Nerve Sheath Tumor Panel by NGS 
Schwannomatosis/Multiple Schwannomas Panel by NGS
Meningiomatosis/Multiple Meningiomas Panel by NGS
{/slide}
{slide=Neurofibromatosis Type 1}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 (17 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
{/slide}
{slide=Neurofibromatosis Type 2}NF2-only by NGS
Peripheral Nerve Sheath Tumor Panel by NGS 
Schwannomatosis/Multiple Schwannomas Panel by NGS
Meningiomatosis/Multiple Meningiomas Panel by NGS
{/slide}
{slide=Noonan-related disorders}Non-NF1 RASopathy NGS panel (16 genes)
Expanded NF1-RASopathy NGS panel (17 genes)
Peripheral Nerve Sheath Tumor Panel by NGS
{/slide}
{slide=PTEN Hamartoma Tumor Syndrome/Macrocephaly-Autism Syndrome}PTEN Comprehensive Sequencing and Deletion/Duplication Analysis
{/slide}
{slide=Schwannomatosis}Peripheral Nerve Sheath Tumor Panel by NGS 
Schwannomatosis/Multiple Schwannomas Panel by NGS
{/slide}
{slide=Tuberous Sclerosis Complex}Tuberous Sclerosis Complex Panel by NGS
{/slide}
{slide=Von-Hippel-Lindau}Comprehensive VHL Analysis
{/slide}