List of diseases covered by
Congenital Disorders of Glycolysation NGS panel
| Gene | Condition |
| ALG1 | Congenital disorder of glycosylation, type Ik |
| ALG11 | Congenital disorder of glycosylation, type Ip |
| ALG12 | Congenital disorder of glycosylation, type Ig |
| ALG13 | Congenital disorder of glycosylation, type Is |
| ALG2 | Congenital disorder of glycosylation, type Ii; Myasthenic syndrome, congenital, 14, with tubular aggregates |
| ALG3 | Congenital disorder of glycosylation, type Id |
| ALG6 | Congenital disorder of glycosylation, type Ic |
| ALG8 | Congenital disorder of glycosylation, type Ih; Polycystic liver disease 3 with or without kidney cysts |
| ALG9 | Congenital disorder of glycosylation, type Il; Gillessen-Kaesbach-Nishimura syndrome |
| ATP6V0A2 | Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome |
| B4GALT1 | Congenital disorder of glycosylation, type IId |
| B3GLCT | Peters-plus syndrome |
| COG1 | Congenital disorder of glycosylation, type IIg |
| COG2 | Congenital disorder of glycosylation, type IIq |
| COG4 | Congenital disorder of glycosylation, type IIj; Saul-Wilson syndrome |
| COG5 | Congenital disorder of glycosylation, type IIi |
| COG6 | Congenital disorder of glycosylation, type IIl; Shaheen syndrome |
| COG7 | Congenital disorder of glycosylation, type IIe |
| COG8 | Congenital disorder of glycosylation, type IIh |
| DDOST | Congenital disorder of glycosylation, type Ir |
| DHDDS | Congenital disorder of glycosylation, type 1bb; Developmental delay and seizures with or without movement abnormalities |
| DOLK | Congenital disorder of glycosylation, type Im |
| DPAGT1 | Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates |
| DPM1 | Congenital disorder of glycosylation, type Ie |
| DPM2 | Congenital disorder of glycosylation, type Iu |
| DPM3 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 |
| GMPPA | Alacrima, achalasia, and mental retardation syndrome |
| GNE | Nonaka myopathy; Sialuria |
| MAGT1 | Congenital disorder of glycosylation, type Icc; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia |
| MAN1B1 | Mental retardation, autosomal recessive 15 |
| MGAT2 | Congenital disorder of glycosylation, type IIa |
| MOGS | Congenital disorder of glycosylation, type IIb |
| MPDU1 | Congenital disorder of glycosylation, type If |
| MPI | Congenital disorder of glycosylation, type Ib |
| NGLY1 | Congenital disorder of deglycosylation |
| PGM1 | Congenital disorder of glycosylation, type It |
| PGM3 | Immunodeficiency 23 |
| PMM2 | Congenital disorder of glycosylation, type Ia |
| RFT1 | Congenital disorder of glycosylation, type In |
| SEC23B | Cowden syndrome 7; Dyserythropoietic anemia, congenital, type II |
| SLC35A1 | Congenital disorder of glycosylation, type IIf |
| SLC35A2 | Congenital disorder of glycosylation, type IIm |
| SLC35C1 | Congenital disorder of glycosylation, type IIc |
| SRD5A3 | Congenital disorder of glycosylation, type Iq; Kahrizi syndrome |
| SSR4 | Congenital disorder of glycosylation, type Iy |
| STT3A | Congenital disorder of glycosylation, type Iw |
| STT3B | Congenital disorder of glycosylation, type Ix |
| TMEM165 | Congenital disorder of glycosylation, type IIk |
| TUSC3 | Mental retardation, autosomal recessive 7 |