Belgian Genetic Tests database- Genetic tests
- Congenital disorders of glycosylation (79 genes)
Congenital disorders of glycosylation (79 genes)
| Full name: |
Congenital disorders of glycosylation (79 genes)
|
| Test type: |
Clinical
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| Test specialty: |
Molecular Genetics
|
| Test purpose: |
Post-natal Diagnosis
|
| Specimen: |
Peripheral (whole) blood on EDTA
|
| Method category: | |
| Method technique: | |
| Laboratory: | |
| RIZIV code: | |
| Turnaround time (maximum): |
unknown
|
| Document(s): | |
| Created: |
18 Jul 2019 - 12:09
|
| Changed: |
08 Feb 2022 - 13:42
|
| URL: |
- ALG1-CDG
- ALG11-CDG
- ALG12-CDG
- ALG13-CDG
- ALG2-CDG
- ALG3-CDG
- ALG6-CDG
- ALG8-CDG
- ALG9-CDG
- Amish infantile epilepsy syndrome
- Autism spectrum disorder-epilepsy-arthrogryposis syndrome
- Autosomal recessive non-syndromic intellectual disability
- B4GALT1-CDG
- COG1-CDG
- COG2-CDG
- COG4-CDG
- COG5-CDG
- COG6-CGD
- COG7-CDG
- COG8-CDG
- Classic galactosemia
- Congenital dyserythropoietic anemia type III
- Congenital muscular dystrophy with intellectual disability
- Congenital muscular dystrophy with intellectual disability and severe epilepsy
- Congenital muscular dystrophy without intellectual disability
- Congenital muscular dystrophy, Fukuyama type
- Congenital myasthenic syndromes with glycosylation defect
- DDOST-CDG
- DK1-CDG
- DPAGT1-CDG
- DPM1-CDG
- DPM3-CDG
- Erythrocyte galactose epimerase deficiency
- Ferro-cerebro-cutaneous syndrome
- Fryns syndrome
- Galactokinase deficiency
- Generalized galactose epimerase deficiency
- Hereditary fructose intolerance
- Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- Hyperphosphatasia-intellectual disability syndrome
- Infantile spasms syndrome
- Leukocyte adhesion deficiency type II
- MAN1B1-CDG
- MGAT2-CDG
- MOGS-CDG
- MPDU1-CDG
- MPI-CDG
- Multiple congenital anomalies-hypotonia-seizures syndrome type 2
- Muscle-eye-brain disease
- Non-specific early-onset epileptic encephalopathy
- PGM1-CDG
- PGM3-CDG
- PMM2-CDG
- Peters plus syndrome
- RFT1-CDG
- SLC35A1-CDG
- SRD5A3-CDG
- STT3A-CDG
- STT3B-CDG
- Salt-and-pepper syndrome
- Schneckenbecken dysplasia
- Sialuria
- TMEM165-CDG
- Triple A syndrome
- Walker-Warburg syndrome
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- ALDOB
- ALG1
- ALG10
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG5
- ALG6
- ALG8
- ALG9
- ATP6V0A2
- ATP9B
- B3GLCT
- B4GALT1
- COG1
- COG2
- COG3
- COG4
- COG5
- COG6
- COG7
- COG8
- DAD1
- DDOST
- DHDDS
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- FKRP
- FKTN
- FUT1
- GALE
- GALK1
- GALT
- GFPT1
- GMPPA
- GMPPB
- GNE
- LARGE1
- MAGT1
- MAN1B1
- MGAT1
- MGAT2
- MOGS
- MPDU1
- MPI
- OST4
- PGM1
- PGM2
- PGM3
- PIGA
- PIGL
- PIGM
- PIGN
- PIGV
- PMM2
- POMGNT1
- POMT1
- POMT2
- RFT1
- RPN1
- RPN2
- SEC23B
- SLC35A1
- SLC35A3
- SLC35C1
- SLC35D1
- SRD5A3
- ST3GAL3
- ST3GAL5
- STT3A
- STT3B
- TMEM165
- TUSC3
-
Congenital disorders of glycosylation (79 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95% ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95% ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95% ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95% ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95% ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95% ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95% ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95% ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95% ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95% ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95% B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95% B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95% COG1 95.00 0 NM_018714.2/ interpretable range CS1>95% COG2 95.00 0 NM_007357.2/ interpretable range CS1>95% COG3 95.00 0 NM_031431.3/ interpretable range CS1>95% COG4 95.00 0 NM_015386.2/ interpretable range CS1>95% COG5 95.00 0 NM_006348.3/ interpretable range CS1>95% COG6 95.00 0 NM_020751.2/ interpretable range CS1>95% COG7 95.00 0 NM_153603.3/ interpretable range CS1>95% COG8 95.00 0 NM_032382.4/ interpretable range CS1>95% DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95% DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95% DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95% DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95% DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95% DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95% DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95% DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95% FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95% FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95% FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95% GALE 95.00 0 NM_000403.3/ interpretable range CS1>95% GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95% GALT 95.00 0 NM_000155.3/ interpretable range CS1>95% GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95% GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95% GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95% MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95% MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95% MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95% MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95% MPI 95.00 0 NM_002435.2/ interpretable range CS1>95% OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95% PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95% PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95% PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95% PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95% PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95% PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95% PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95% POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95% POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95% POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95% RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95% RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95% RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95% SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95% SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95% SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95% SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95% SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95% ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95% ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95% STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95% STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95% TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95% TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95%