NGS of 11 gene panel: ALG11, BCS1L, C12orf65, MGAT2, NDUFA1, PAH, SRD5A3, SCO2, SLC25A15, SLC2A1, UROC1

Consult

Documentation:
Ref: LV3025 Categories: , , , , , , Diseases: ID with metabolic diseases: Congenital disorder of glycosylation Ip, IIA, Iq; Combined oxidative phosphorylation deficiency 7 (D); phenylketonuria; Cytochrome c oxidase D 1; Hyperornithinemia Genes: BCS1L, SLC25A15, SLC2A1, NDUFA1, SRD5A3, SCO2, C12ORF65, UROC1, MGAT2, PAH, ALG11Delivery term: 42 days