List of diseases covered by Congenital Disorders of Glycolysation NGS panel

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

Congenital Disorders of Glycolysation NGS panel

Congenital Disorders of Glycolysation NGS panel

Genes
(full coding
region):
ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ATP6V0A2, B4GALT1, B3GLCT, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, GMPPA, GNE, MAGT1, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, PGM1, PGM3, PMM2, RFT1, SEC23B, SLC35A1, SLC35A2, SLC35C1, SRD5A3, SSR4, STT3A, STT3B, TMEM165, TUSC3

List of diseases covered by the panel


Lab method: NGS panel

NGS panel with CNV


TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form