(all downloadable pdfs)

 Certificates 


 NF1 - Neurofibromatosis Type 1


 NF2 - Neurofibromatosis Type 2


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


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