Next Generation Sequencing of 7 gene panel: DYNC2H1, EVC, EVC2, GLI2, IFT80, NEK1, WDR35.

Consult

Documentation:
Ref: LV2205 Categories: , , , , , , , , , Diseases: Short-ribs dysplasias (with or without polydactyly) group (SRPS): Chondroectodermal dysplasia (Ellis-van Creveld), SRPS typeS 1/3, (Saldino-Noonan/Verma-Naumoff), II, III, V.Genes: IFT80, EVC, GLI2, WDR35, NEK1, EVC2, DYNC2H1Delivery term: 42 days