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

IllnessThanatophoric dysplasia, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Thanatophoric dysplasia containing 1 core gene, 7 core candidate genes and altogether 32 curated genes according to the clinical signs

ID
TP8374
Number of genes
9 Accredited laboratory test
Examined sequence length
26,1 kb (Core-/Core-canditate-Genes)
39,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
COL1A14395NM_000088.4AD
COL1A24101NM_000089.4AD
COL2A14464NM_001844.5AD, AR
FGFR32421NM_000142.5AD, co-dominant
PEX7972NM_000288.4AR
SLC26A22220NM_000112.4AR
SOX91530NM_000346.4AD
TRIP115940NM_004239.4AR
HSPG213176NM_005529.7AR

Informations about the disease

Clinical Comment

Primary bone dysplasia with micromelia, micromelia, macrocephaly, narrow thorax, distinctive facial features; type 1 +2 differentiated from each other by femur + skull shape

 

Synonyms
  • DD: Thanatophoric dysplasia I/II, Achondrogenesis (SLC26A2, TRIP11)
  • DD: Thanatophoric dysplasia I/II, Campomelic dysplasia (SOX9)
  • DD: Thanatophoric dysplasia I/II, Osteogenesis imperfecta type II (COL1A1, COL1A2)
  • DD: Thanatophoric dysplasia I/II, Platyspondylic lethal skeletal dysplasia (COL2A1)
  • DD: Thanatophoric dysplasia I/II, Rhizomelic chondrodysplasia punctata (PEX7)
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Allelic: Bardet-Biedl syndrome 20 (IFT172)
  • Allelic: Caffey disease (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
  • Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 2 (COL1A2)
  • Allelic: Ehlers-Danlos syndrome, cardiac valvular type (COL1A2)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Peroxisome biogenesis disorder 9B (PEX7)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Schwartz-Jampel syndrome, type 1 (HSPG2)
  • Achondrogenesis, type IA (TRIP11)
  • Achondrogenesis, type IB (SLC26A2)
  • Campomelic dysplasia (SOX9)
  • Cranioectodermal dysplasia 1 (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
  • Joubert syndrome 23 (KIAA0586)
  • Joubert syndrome 31 (CEP120)
  • Opsismodysplasia (INPPL1)
  • Osteogenesis imperfecta, type I-IV (COL1A1)
  • Osteogenesis imperfecta, type II-IV (COL1A2)
  • Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
  • Rhizomelic chondrodysplasia punctata, type (PEX7)
  • SADDAN [severe achondroplasia + developmental delay + acanthosis nigricans] (FGFR3)
  • Schneckenbecken dysplasia (SLC35D1)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 13 with/-out polydactyly (CEP120)
  • Short-rib thoracic dysplasia 14 with polydactyly (KIAA0586)
  • Short-rib thoracic dysplasia 15 with polydactyly (DYNC2LI1)
  • Short-rib thoracic dysplasia 16 with/-out polydactyly (IFT52)
  • Short-rib thoracic dysplasia 17 with/-out polydactyly (TCTEX1D2)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 3 with/-out polydactyly (DYNC2H1)
  • Short-rib thoracic dysplasia 4 with/-out polydactyly (TTC21B)
  • Short-rib thoracic dysplasia 5 with/-out polydactyly (WDR19)
  • Short-rib thoracic dysplasia 6 with/-out polydactyly (NEK1)
  • Short-rib thoracic dysplasia 7 with/-out polydactyly (WDR35)
  • Short-rib thoracic dysplasia 8 with/-out polydactyly (DYNC2I1)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly (IFT140)
  • Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (PAM16)
  • Spondylometaphyseal dysplasia, Sedaghatian type (GPX4)
  • Spondylometaphyseal dysplasia, axial (CFAP410)
  • Thanatophoric dysplasia I/II (FGFR3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • co-dominant
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined

Laboratory requirement

  • Die in grün gezeigten Gene sind kuratiert und werden als Gen-Panel untersucht. Eine Erweiterung des Panels (blau gezeigte Gene, jeweils ebenfalls kuratiert) kann auf Anfrage erfolgen. Sofern unter "Erweitertes Panel" ein Minuszeichen angezeigt wird, sind nur Core-/Basis-Gene verfügbar.

  • Für die Anforderung einer genetischen Untersuchung senden Sie uns bitte die Krankheits-ID auf einem Überweisungsschein. Bitte die Material-Angabe beachten.

  • Für privat versicherte Patienten empfehlen wir einen Antrag auf Kostenübernahme bei der Krankenversicherung.

  • Die Untersuchung wird auch für Selbstzahler angeboten.