Spondylocostal Dysostosis Disorders 5 Gene Panel

Laboratories

1 laboratory offers this test:

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Service level Referral category Laboratory Calendar Days NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Postnatal Diagnosis Routine Exeter RGC 112 £750
Testing for known mutations in family members Prenatal Diagnosis Exeter RGC 3 £250
Testing for known mutations in family members Postnatal Diagnosis Routine Exeter RGC 28 £100
Testing for known mutations in family members Postnatal Diagnosis Urgent Exeter RGC 10 £100

Genes & Disorders

Show alternative names & symbols

Disorders Symbol MIM Links
  • Spondylocostal Dysostosis 1, Autosomal Recessive
    • Costovertebral Dysplasia
    • Jarcho-Levin Syndrome
    • Spondylothoracic Dysostosis
    • Spondylothoracic Dysplasia
    • Vertebral Anomalies
  • SCDO1
  • Spondylocostal Dysostosis 2, Autosomal Recessive
  • SCDO2
  • Spondylocostal Dysostosis 3, Autosomal Recessive
  • SCD03
    • 0
  • Spondylocostal Dysostosis 4, Autosomal Recessive
  • SCDO4
    • 0
  • Spondylocostal Dysostosis 5
  • SCDO5
    • 0
Genes Symbol MIM HGNC Links
  • delta-like canonical Notch ligand 3
    • delta, drosophila, homolog of
    • delta-like 3
    • delta-like 3 (drosophila)
  • DLL3
    • SCDO1
  • hes family bHLH transcription factor 7
  • HES7
  • LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
  • LFNG
    • SCDO3
  • mesoderm posterior bHLH transcription factor 2
    • mesoderm posterior 2 homolog (mouse)
  • MESP2
    • BHLHC6
    • SCDO2
  • T-box 6
  • TBX6

Testing Criteria & Gene Dossiers

Testing criteria
Gene dossier

Specialties

Specialties
  • Clinical Genetics
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