- Genetic tests
- Short stature/ Growth retardation/ (gene panel)
Short stature/ Growth retardation/ (gene panel)
Full name: |
Short stature/ Growth retardation/ (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: | |
EQA: |
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Accreditation (ISO 15189): |
2023-11-09 / 2024-05-08
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Turnaround time (maximum): |
6 months
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Document(s): | |
Created: |
21 Aug 2019 - 10:43
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Changed: |
22 Jan 2024 - 14:24
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URL: |
- 3M syndrome
- Aarskog-Scott syndrome
- Achondroplasia
- Acromesomelic dysplasia, Maroteaux type
- Autosomal recessive Robinow syndrome
- Autosomal recessive primary microcephaly
- Coffin-Siris syndrome
- Cornelia de Lange syndrome
- DNA2-related mitochondrial DNA deletion syndrome
- Ear-patella-short stature syndrome
- Familial osteochondritis dissecans
- Floating-Harbor syndrome
- Growth delay due to insulin-like growth factor I resistance
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hypochondroplasia
- Isolated growth hormone deficiency type IB
- Langer mesomelic dysplasia
- Laron syndrome
- Laron syndrome with immunodeficiency
- Léri-Weill dyschondrosteosis
- Melnick-Needles syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic primordial dwarfism, Dauber type
- Muenke syndrome
- Mulibrey nanism
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- Peripheral resistance to thyroid hormones
- SHOX-related short stature
- Saethre-Chotzen syndrome
- Seckel syndrome
- Short stature due to growth hormone qualitative anomaly
- Short stature due to partial GHR deficiency
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepiphyseal dysplasia, Kimberley type
- Tall stature-long halluces-multiple extra-epiphyses syndrome
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Wiedemann-Steiner syndrome
- X-linked Ehlers-Danlos syndrome
- ACAN
- ALPL
- ANKRD11
- ARCN1
- ARID1A
- ARID1B
- ARID2
- BMP2
- BRAF
- BTK
- CBL
- CCDC8
- CDC45
- CDC6
- CDKN1C
- CDT1
- CREBBP
- CUL7
- DHCR7
- DVL1
- EP300
- FGD1
- FGFR3
- FLNA
- GH1
- GHR
- GHRHR
- GHSR
- GMNN
- HESX1
- HMGA2
- HRAS
- IGF1
- IGF1R
- IGF2
- IGFALS
- IHH
- KDM6A
- KMT2A
- KMT2D
- KRAS
- LZTR1
- MAP2K1
- MAP2K2
- MAPK1
- MRAS
- NBAS
- NPR2
- NRAS
- OBSL1
- ORC1
- ORC4
- ORC6
- PAPPA2
- PIK3R1
- PLAG1
- POC1A
- POU1F1
- PPP1CB
- PTPN11
- RAF1
- RASA2
- RIT1
- RNPC3
- ROR2
- RRAS2
- SHOC2
- SHOX
- SMARCA4
- SMARCB1
- SOS1
- SOS2
- SOX3
- SPRED2
- SRCAP
- STAT5B
- TOP3A
- TRIM37
- WNT5A
- YY1
-
Growth retardation/short stature (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 98.48 1 ALPL 99.97 1 ANKRD11 100.00 1 ARCN1 99.91 1 ARID1A 98.84 1 ARID1B 97.80 1 ARID2 99.96 1 BMP2 99.97 1 BRAF 98.17 1 BTK 99.34 1 CBL 99.89 1 CCDC8 100.00 1 CDC45 100.00 1 CDC6 99.94 1 CDKN1C 97.19 1 CDT1 94.33 1 CREBBP 99.91 1 CUL7 100.00 1 DHCR7 100.00 1 DVL1 100.00 1 EP300 99.96 1 FGD1 98.85 1 FGFR3 99.67 1 FLNA 99.89 1 GH1 100.00 1 GHR 99.78 1 GHRHR 99.79 1 GHSR 99.99 1 GMNN 99.70 1 HESX1 99.81 1 HMGA2 72.70 1 HRAS 100.00 1 IGF1 99.96 1 IGF1R 99.98 1 IGF2 100.00 1 IGFALS 100.00 1 IHH 99.93 1 KDM6A 98.95 1 KMT2A 99.18 1 KMT2D 99.98 1 KRAS 99.92 1 LZTR1 99.99 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.56 1 MRAS 100.00 1 NBAS 99.97 1 NPR2 99.97 1 NRAS 99.45 1 OBSL1 99.32 1 ORC1 99.96 1 ORC4 99.90 1 ORC6 99.91 1 PAPPA2 99.91 1 PIK3R1 99.80 1 PLAG1 99.90 1 POC1A 99.98 1 POU1F1 99.92 1 PPP1CB 99.99 1 PTPN11 99.91 1 RAF1 99.96 1 RASA2 99.59 1 RIT1 99.96 1 RNPC3 99.76 1 ROR2 99.24 1 RRAS2 99.60 1 SHOC2 99.81 1 SHOX 94.81 1 SMARCA4 99.98 1 SMARCB1 100.00 1 SOS1 99.81 1 SOS2 99.70 1 SOX3 97.93 1 SPRED2 99.96 1 SRCAP 99.97 1 STAT5B 99.94 1 TOP3A 99.95 1 TRIM37 99.81 1 WNT5A 99.96 1 YY1 99.63 1