Autosomal Recessive Polycystic Kidney Disease
- 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
Costello syndrome
- Non-NF1 RASopathy NGS panel (16 genes)
- Expanded NF1-RASopathy NGS panel (17 genes)
- HRAS Single Gene Analysis for Costello Syndrome
Fragile X
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
Medium Chain Acyl-CoA Dehydrogenase Deficiency(MCADD)
Meningiomatosis
- Peripheral Nerve Sheath Tumor Panel by NGS
- Schwannomatosis/Multiple Schwannomas Panel by NGS
- Meningiomatosis/Multiple Meningiomas Panel by NGS
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
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
Noonan-related disorders
- 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
Schwannomatosis
Tuberous Sclerosis Complex
Von-Hippel-Lindau