Condition-Based Testing Directory
Select a condition below to view the available testing options.
Autosomal Recessive Polycystic Kidney Disease
Capillary Malformation–Arteriovenous Malformation Syndrome/Parkes Weber Syndrome
Costello Syndrome
Fragile X Syndrome
Legius Syndrome
- Next-Generation Sequencing and Deletion/Duplication Analysis of SPRED1 Only (SPD1-NG)
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF1 and SPRED1 (NFSP-NG)
- Expanded NF1 RASopathy Panel by Next-Generation Sequencing (RAS-NG; 18 genes)
- RNA-Based NF1/SPRED1 Testing on Cultured Cells from Affected Tissues (NF14N/NF14C)
- RNA-Based NF1 and Genomic DNA-Based SPRED1 Testing on Blood (NFSP-R)
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Meningiomatosis
Neurofibromatosis Type 1
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF1 Only (NF1-NG)
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF1 and SPRED1 (NFSP-NG)
- Expanded NF1 RASopathy Panel by Next-Generation Sequencing (RAS-NG; 18 genes)
- Peripheral Nerve Sheath Tumor Panel by Next-Generation Sequencing (PNT-NG)
- RNA-Based NF1/SPRED1 Testing on Cultured Cells from Affected Tissues (NF14N/NF14C)
- RNA-Based NF1 and Genomic DNA-Based SPRED1 Testing on Blood (NFSP-R)
NF2-Related Schwannomatosis
- Next-Generation Sequencing and Deletion/Duplication Analysis of NF2 Only (NF2-NG)
- Peripheral Nerve Sheath Tumor Panel by Next-Generation Sequencing (PNT-NG)
- Schwannomatosis/Multiple Schwannoma Panel by Next-Generation Sequencing (SCH-NG)
- Meningiomatosis/Multiple Meningioma Panel by Next-Generation Sequencing (MEN-NG)