NGS of 12 gene panel: DHCR7, GPC3, KDM6A, KMT2D, LAMP1, LYST, MLPH, MYO5A, OFD1, RAB27A, RAI1, TCF4,

Consult

Documentation:
Ref: LV3503 Categories: , , , , , , , , , , , , , Diseases: Lysosomal syndromes: Chediak-Higashi, Smith Lemli Opitz, Simpson Golabi, Kabuki, Griscelli, Smith Magenis,  Pitt Hopkins.  Genes: OFD1, RAB27A, RAI1, MLPH, LYST, KDM6A, GPC3, KMT2D, DHCR7, LAMP1, TCF4, MYO5ADelivery term: 42 days