- Genetic tests
- Congenital disorders of glycosylation (gene panel)
Congenital disorders of glycosylation (gene panel)
Full name: |
Congenital disorders of glycosylation (gene panel)
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Test type: |
Clinical
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Test specialty: |
Molecular Genetics
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Test purpose: |
Post-natal Diagnosis
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Specimen: |
Peripheral (whole) blood on EDTA
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Method category: | |
Method technique: | |
Laboratory: | |
RIZIV code: | |
Turnaround time (maximum): |
unknown
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Document(s): | |
Created: |
18 Jul 2019 - 12:09
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Changed: |
16 Apr 2024 - 10:05
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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
- ATP6AP1
- ATP6AP2
- ATP6V0A2
- ATP6V1A
- ATP6V1E1
- B4GALT1
- CAD
- CAMLG
- CCDC115
- COG1
- COG2
- COG3
- COG4
- COG5
- COG6
- COG7
- COG8
- DAD1
- DDOST
- DHDDS
- DHRSX
- DOLK
- DOLPP1
- DPAGT1
- DPM1
- DPM2
- DPM3
- EDEM3
- FCSK
- FUT1
- FUT8
- G6PC3
- GALE
- GALK1
- GALM
- GALT
- GANAB
- GET3
- GET4
- GFPT1
- GFUS
- GMPPA
- GMPPB
- GNE
- GNPNAT1
- MAGT1
- MAN1B1
- MAN2B2
- MGAT2
- MOGS
- MPDU1
- MPI
- NANS
- NPL
- NUS1
- OST4
- OSTC
- PGM1
- PGM3
- PMM2
- PRKCSH
- RFT1
- RPN1
- RPN2
- SEC23B
- SLC10A7
- SLC35A1
- SLC35A2
- SLC35A3
- SLC35C1
- SLC35D1
- SLC37A4
- SLC39A8
- SLC9A7
- SRD5A3
- SSR3
- SSR4
- STT3A
- STT3B
- STX5
- TMEM165
- TMEM199
- TRAPPC9
- TUSC3
- UGDH
- UGP2
- VMA21
-
Congenital disorders of glycosylation (100 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 84.08 0 NM_000035.4 ALG1 98.93 0 NM_019109.5 ALG10 99.70 0 NM_032834.4 ALG11 99.76 0 NM_001004127.3 ALG12 99.83 0 NM_024105.4 ALG13 99.93 0 NM_001099922.3 ALG14 99.94 0 NM_144988.4 ALG2 99.94 0 NM_033087.4 ALG3 99.94 0 NM_005787.6 ALG5 99.94 0 NM_013338.5 ALG6 99.94 0 NM_013339.4 ALG8 99.94 0 NM_024079.5 ALG9 99.95 0 NM_024740.2 ATP6AP1 99.95 0 NM_001183.6 ATP6AP2 99.95 0 NM_005765.3 ATP6V0A2 99.95 0 NM_012463.4 ATP6V1A 99.95 0 NM_001690.4 ATP6V1E1 99.96 0 NM_001696.4 B4GALT1 99.96 0 NM_001497.4 CAD 99.96 0 NM_004341.5 CAMLG 99.97 0 NM_001745.4 CCDC115 99.97 0 NM_032357.4 COG1 99.97 0 NM_018714.3 COG2 99.97 0 NM_007357.3 COG3 99.97 0 NM_031431.4 COG4 99.97 0 NM_015386.3 COG5 99.97 0 NM_006348.5 COG6 99.97 0 NM_020751.3 COG7 99.97 0 NM_153603.4 COG8 99.98 0 NM_032382.5 DAD1 99.98 0 NM_001344.4 DDOST 99.98 0 NM_005216.5 DHDDS 99.98 0 NM_024887.4 DHRSX 99.98 0 NM_145177.3 DOLK 99.98 0 NM_014908.4 DOLPP1 99.98 0 NM_020438.5 DPAGT1 99.98 0 NM_001382.4 DPM1 99.98 0 NM_003859.3 DPM2 99.98 0 NM_003863.4 DPM3 99.98 0 NM_153741.2 EDEM3 99.98 0 NM_025191.4 FCSK 99.99 0 NM_145059.3 FUT1 99.99 0 NM_000148.4 FUT8 99.99 0 NM_178155.3 G6PC3 99.99 0 NM_138387.4 GALE 99.99 0 NM_000403.4 GALK1 99.99 0 NM_000154.2 GALM 99.99 0 NM_138801.3 GALT 99.99 0 NM_000155.4 GANAB 99.99 0 NM_198335.4 GET3 99.99 0 NM_004317.4 GET4 99.99 0 NM_015949.3 GFPT1 99.99 0 NM_001244710.2 GFUS 99.99 0 NM_003313.4 GMPPA 99.99 0 NM_205847.3 GMPPB 99.99 0 NM_013334.4 GNE 99.99 0 NM_001128227.3 GNPNAT1 99.99 0 NM_198066.4 MAGT1 99.99 0 NM_032121.5 MAN1B1 99.99 0 NM_016219.5 MAN2B2 99.99 0 NM_015274.3 MGAT2 99.99 0 NM_002408.4 MOGS 99.99 0 NM_006302.3 MPDU1 100.00 0 NM_004870.4 MPI 100.00 0 NM_002435.3 NANS 100.00 0 NM_018946.4 NPL 100.00 0 NM_030769.3 NUS1 100.00 0 NM_138459.5 OST4 100.00 0 NM_001134693.2 OSTC 100.00 0 NM_001267818.2 PGM1 100.00 0 NM_002633.3 PGM3 100.00 0 NM_001199917.2 PMM2 100.00 0 NM_000303.3 PRKCSH 100.00 0 NM_002743.3 RFT1 100.00 0 NM_052859.4 RPN1 100.00 0 NM_002950.4 RPN2 100.00 0 NM_002951.5 SEC23B 100.00 0 NM_006363.6 SLC10A7 100.00 0 NM_001300842.3 SLC35A1 100.00 0 NM_006416.5 SLC35A2 100.00 0 NM_001042498.3 SLC35A3 100.00 0 NM_012243.3 SLC35C1 100.00 0 NM_018389.5 SLC35D1 100.00 0 NM_015139.3 SLC37A4 100.00 0 NM_001164277.2 SLC39A8 100.00 0 NM_022154.5 SLC9A7 100.00 0 NM_032591.3 SRD5A3 100.00 0 NM_024592.5 SSR3 100.00 0 NM_007107.5 SSR4 100.00 0 NM_001204526.1 STT3A 100.00 0 NM_001278503.2 STT3B 100.00 0 NM_178862.3 STX5 100.00 0 NM_003164.5 TMEM165 100.00 0 NM_018475.5 TMEM199 100.00 0 NM_152464.3 TRAPPC9 100.00 0 NM_031466.8 TUSC3 100.00 0 NM_006765.4 UGDH 100.00 0 NM_003359.4 UGP2 100.00 0 NM_006759.4 VMA21 100.00 0 NM_001017980.4