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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessSpondylocarpotarsal synostosis, differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel containing 1 core gene, 10 core candidate genes and altogether 12 genes for Spondylocarpotarsal synostosis according to the clinical symptoms

ID
SP3149
Number of genes
1 Accredited laboratory test
Examined sequence length
1,4 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GDF61368NM_001001557.4AD

Informations about the disease

Synonyms
  • Mild to severe symptoms: SCT syndrome + Larsen syndrome > AOI +AOIII + POCD
  • Atelosteogenesis types I, AOI (FLNB) + III AOIII (FLNB)
  • Larsen syndrome (FLNB)
  • Piepkorn osteochondrodysplasia, POCD (FLNB)
  • Spondylocarpotarsal synostosis, SCT syndrome (FLNB)
  • Allelic: Acromesomelic dysplasia 2A (GDF5)
  • Allelic: Acromesomelic dysplasia 2B (GDF5)
  • Allelic: Acromesomelic dysplasia 2C, Hunter-Thompson type (GDF5)
  • Allelic: Brachydactyly, type A1, C (GDF5)
  • Allelic: Brachydactyly, type A2 (GDF5)
  • Allelic: Brachydactyly, type B2 (NOG)
  • Allelic: Brachydactyly, type C (GDF5)
  • Allelic: Leber congenital amaurosis 17 (GDF6)
  • Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
  • Allelic: Microphthalmia, isolated 4 (GDF6)
  • Allelic: Osteoarthritis-5 (GDF5)
  • Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
  • Allelic: Symphalangism, proximal, 1A (NOG)
  • Allelic: Symphalangism, proximal, 1B (GDF5)
  • Arthrogryposis, distal, type 2A, Freeman-Sheldon (MYH3)
  • Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
  • Contractures, pterygia, + spondylocarpostarsal fusion syndrome 1A (MYH3)
  • Contractures, pterygia, + spondylocarpotarsal fusion syndrome 1B (MYH3)
  • Klippel-Feil syndrome 1, AD (GDF6)
  • Multiple synostoses syndrome 1 (NOG)
  • Multiple synostoses syndrome 2 (GDF5)
  • Multiple synostoses syndrome 3 (FGF9=
  • Multiple synostoses syndrome 4 (GDF6)
  • Spondylocostal dysostosis 1, AR (DLL3)
  • Spondylocostal dysostosis 2, AR (MESP2)
  • Spondylocostal dysostosis 3, AR (LFNG)
  • Spondylocostal dysostosis 4, AR (HES7)
  • Spondylocostal dysostosis 5 (TBX6)
  • Spondylocostal dysostosis 6 (RIPPLY2)
  • Tarsal-carpal coalition syndrome (NOG)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined