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Testing Services-Sort by Disorder

+ - Autosomal Recessive Polycystic Kidney Disease Click to collapse
PKHD1 Known Mutation Testing (KT2)
PKHD1 Known Mutation Prenatal Testing (PT2)
PKHD1 Linkage Analysis for Informativity & Prenatal Linkage

+ - Capillary/Arteriovenous Malformation syndrome/Parkes Weber syndrome Click to collapse
RASA1 Analysis by NGS

+ - Costello syndrome Click to collapse
Non-NF1 RASopathy NGS panel (16 genes)
Expanded NF1-RASopathy NGS panel (17 genes)
HRAS Single Gene Analysis for Costello Syndrome

+ - Fragile X Click to collapse
Fragile X Analysis

+ - Legius syndrome Click to collapse
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

+ - Medium Chain Acyl-CoA Dehydrogenase Deficiency(MCADD) Click to collapse
Comprehensive MCADD Sequencing Analysis

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

+ - Neurofibromatosis Type 1 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 (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

+ - Neurofibromatosis Type 2 Click to collapse
NF2-only by NGS
NF2-only in Tumor Block
Peripheral Nerve Sheath Tumor Panel by NGS 
Schwannomatosis/Multiple Schwannomas Panel by NGS
Meningiomatosis/Multiple Meningiomas Panel by NGS

+ - Noonan-related disorders Click to collapse
Non-NF1 RASopathy NGS panel (16 genes)
Expanded NF1-RASopathy NGS panel (17 genes)
Peripheral Nerve Sheath Tumor Panel by NGS

+ - PTEN Hamartoma Tumor Syndrome/Macrocephaly-Autism Syndrome Click to collapse
PTEN Comprehensive Sequencing and Deletion/Duplication Analysis

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

+ - Tuberous Sclerosis Complex Click to collapse
Tuberous Sclerosis Complex Panel by NGS

+ - Von-Hippel-Lindau Click to collapse
Comprehensive VHL Analysis