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

IllnessScoliosis, early onset; differential diagnosis

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Summary

Short information

A comprehensive differential diagnostic panel for Scoliosis, early onset, containing 1 core candidate gene and altogether 12 genes according to the clinical symptoms

ID
SP8256
Number of genes
4 Accredited laboratory test
Examined sequence length
8,7 kb (Core-/Core-canditate-Genes)
20,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FBN18616NM_000138.5AD
NF18457NM_001042492.3AD
TGFBR11512NM_004612.4AD
TGFBR21704NM_003242.6AD

Informations about the disease

Synonyms
  • Allelic: Acromicric dysplasia (FBN1)
  • Allelic: Colorectal cancer, hereditary nonpolyposis, type 6 (TGFBR2)
  • Allelic: Ectopia lentis, familial (FBN1)
  • Allelic: Geleophysic dysplasia 2 (FBN1)
  • Allelic: King-Denborough syndrome (RYR1)
  • Allelic: Leukemia, juvenile myelomonocytic (NF1)
  • Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
  • Allelic: Marfan lipodystrophy syndrome (FBN1)
  • Allelic: Multiple self-healing squamous epithelioma, susceptibility to (TGFBR1)
  • Allelic: Neurofibromatosis-Noonan syndrome (NF1)
  • Allelic: Stiff skin syndrome (FBN1)
  • Allelic: Watson syndrome (NF1)
  • Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
  • Central core disease (RYR1)
  • Cowden syndrome 5 (PIK3CA)
  • Dystonia 6, torsion (THAP1)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (FKBP14)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • MASS syndrome (FBN1)
  • Marfan syndrome (FBN1)
  • Minicore myopathy with external ophthalmoplegia (RYR1)
  • Neurofibromatosis, familial spinal (NF1)
  • Neurofibromatosis, type 1 (NF1)
  • Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
  • Osteogenesis imperfecta, type XXI (KADELR2)
  • Short stature, amelogenesis imperfecta + skeletal dysplasia with scoliosis (SLC10A7)
  • Spondylocostal dysostosis 5 (TBX6)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined