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(all downloadable pdfs)


NF1/SPRED1/RASopathies - Neurofibromatosis Type 1, Legius syndrome, and Noonan Related Disorders


NF2/SUFU/SMARCE1 - Neurofibromatosis Type 2/Schwannomatosis/Meningiomatosis/Multiple Meningiomas


SMARCB1 (alias: INI1)/LZTR1 - Schwannomatosis /Atypical Teratoid/Rhabdoid Tumor Predisposition Syndrome


Peripheral Nerve Sheath Tumor Analysis



PTEN - PTEN Hamartoma Tumor Syndrome/ Macrocephaly-Autism Syndrome



VHL - Von Hippel-Lindau Syndrome


PKHD1 - Autosomal Recessive Polycystic Kidney Disease (ARPKD)


TSC1/TSC2 - Tuberous Sclerosis Complex (TSC)


 Other Laboratory Testing Services