Next Generation Sequencing of 7 gene panel: AGPS, ARSE, EBP, GNPAT, IMPAD1, LBR, PEX7.

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Documentation:
Ref: LV2219 Categories: , , , , , , , , Diseases: Chondrodysplasia punctata (CDP) group:  CDP, types 1, 2, 3;  Greenberg dysplasia, autosomal recessive;  CDP with joint dislocations, GRAPP type; CDP, brachytelephalangicGenes: AGPS, IMPAD1, PEX7, GNPAT, LBR, EBP, ARSEDelivery term: 42 days