Short stature/ Growth retardation/ (gene panel)

Genetic test Export to PDF

Full name:	Short stature/ Growth retardation/ (gene panel)
Test type:	Clinical
Test specialty:	Molecular Genetics
Test purpose:	Post-natal Diagnosis
Specimen:	Peripheral (whole) blood on EDTA
Method category:	Sequence analysis: entire coding region Whole Exome Sequencing (WES)
Method technique:	Next Generation Sequencing (NGS)
Laboratory:	Centrum Medische Genetica - UZ Antwerpen
RIZIV code:	565493-565504
EQA:	2020 Familial SHOX-related disorders EMQN
Turnaround time (maximum):	6 months
Document(s):	AANVRAAG GENETISCH ONDERZOEK ALGEMEEN_1.pdf434.44 KB Toestemmingsformulier exoom_Nederlands.pdf301.57 KB Toestemmingsformulier exoom_Frans.pdf392.07 KB Toestemmingsformulier exoom_Engels.pdf302.72 KB
Created:	21 Aug 2019 - 10:43
Changed:	22 Jun 2022 - 12:07
URL:	https://labogidsmedgen.uza.be/analyses/whole-exome-sequencing-wes-ikv-short-sta…

Related Diseases

• 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

Related Laboratories

• Centrum Medische Genetica - UZ Antwerpen

Related Analytes

• ACAN
• ANKRD11
• ARID1A
• ATR
• CCDC8
• CDC45
• CDC6
• CDT1
• CENPJ
• CEP152
• CEP63
• CHD4
• CUL7
• DNA2
• FGD1
• FGFR3
• FLNA
• GH1
• GHR
• GHRHR
• GHSR
• GMNN
• IGF1
• IGF1R
• IGF2
• IGFALS
• IKBKB
• IL2RG
• KMT2A
• NIN
• NPPC
• NPR2
• NPR3
• OBSL1
• ORC1
• ORC4
• ORC6
• PAPPA2
• PCNT
• PIK3R1
• POC1A
• PTPN11
• RBBP8
• ROR2
• SHOX
• SRCAP
• STAT3
• STAT5B
• THRA
• TRAIP
• TRIM37
• WNT5A

Related Gene Panels

• Growth retardation/short stature (52 genes) - UZA
  Details

  Gene	% of coding sequence sufficiently covered to detect heterozygous mutations	Copy number variation	Comments
  ACAN
  ANKRD11
  ARID1A
  ATR
  CCDC8
  CDC45
  CDC6
  CDT1
  CENPJ
  CEP152
  CEP63
  CHD4
  CUL7
  DNA2
  FGD1
  FGFR3
  FLNA
  GH1
  GHR
  GHRHR
  GHSR
  GMNN
  IGF1
  IGF1R
  KMT2A
  NIN
  NPPC
  NPR2
  NPR3
  OBSL1
  ORC1
  ORC4
  ORC6
  PCNT
  POC1A
  PTPN11
  RBBP8
  ROR2
  SHOX
  SRCAP
  STAT5B
  THRA
  TRAIP
  TRIM37
  WNT5A
  IGF2
  IGFALS
  IKBKB
  IL2RG
  PAPPA2
  PIK3R1
  STAT3