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Know how in the analysis of genetic material.
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IllnessThoracic dystrophies, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Thoracic dystrophies comprising 15 core as well as core candidate genes and altogether 37 curated genes according to the clinical signs

ID
TP2297
Number of loci
Locus typeCount
Gen 34
Accredited laboratory test
Examined sequence length
63,5 kb (Core-/Core-canditate-Genes)
105,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
C2CD35892NM_015531.6AR
CEP1202961NM_153223.4AR
CSPP13666NM_024790.6AR
DYNC2H112945NM_001080463.2AR, digenisch
DYNC2I13201NM_018051.5AR
EVC2979NM_153717.3AD, AR
EVC23927NM_147127.5AD, AR
IFT1404389NM_014714.4AR
IFT1725250NM_015662.3AR
IFT43642NM_052873.3AR
IFT802334NM_020800.3AR
NEK13777NM_012224.4AR, digenisch
TTC21B3951NM_024753.5AR
WDR194029NM_025132.4AR
WDR353546NM_001006657.2AR
CFAP4101507NM_004928.3AR
CILK11899NM_014920.5AR
DDX591860NM_001031725.6AR
DYNC2I21611NM_052844.4AR
DYNC2LI11438NM_016008.4AR
DYNLT2B429AR
FGFR32421NM_000142.5AD
HYLS1900NM_145014.3AR
IFT1223879NM_052985.4AR
IFT521327NM_001303458.3AR
IFT812158NM_001143779.2AR
INTU2829NM_015693.4AR
KIAA05865005NM_001244189.2AR
KIAA07532989NM_014804.3AR
KIF74032NM_198525.3AR
OFD13039NM_003611.3XL
TMEM107514NM_032354.5AR
TRAF3IP11878NM_001139490.1AR
TRPV62313NM_018646.6AR

Informations about the disease

Synonyms
  • Alias: Asphyxiierende Thoraxdystrophie (des Neugeborenen)
  • Alias: Jeune Asphyxiyting Thorax Dystrophy, JATD
  • Alias: Jeune Syndrom
  • Allelic: Amyotrophic lateral sclerosis, susceptibility to, 24 (NEK1)
  • Allelic: Bladder cancer, somatic; Cervical cancer, somatic; Colorectal cancer, somatic (FGFR3)
  • Allelic: CATSHL syndrome (FGFR3)
  • Allelic: Cervical cancer, somatic (FGFR3)
  • Allelic: Colorectal cancer, somatic (FGFR3)
  • Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
  • Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 10 (CILK1)
  • Allelic: Hypochondroplasia (FGFR3)
  • Allelic: Joubert syndrome 23 (KIAA0586)
  • Allelic: Joubert syndrome 29 (TMEM107)
  • Allelic: LADD syndrome (FGFR3)
  • Allelic: Meckel syndrome 13 (TMEM107)
  • Allelic: Muenke syndrome (FGFR3)
  • Allelic: Naevus, epidermal, somatic (FGFR3)
  • Allelic: Nephronophthisis 12 (TTC21B)
  • Allelic: Nephronophthisis 13 (WDR19)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410 syn. C21orf2)
  • Allelic: Retinal dystrophy with macular staphyloma (CFAP410)
  • Allelic: Retinitis pigmentosa 23 (OFD1)
  • Allelic: Retinitis pigmentosa 71 (IFT172)
  • Allelic: Retinitis pigmentosa 80 (IFT140)
  • Allelic: Retinitis pigmentosa 81 (IFT43)
  • Allelic: Simpson-Golabi-Behmel syndrome, type 2 (OFD1)
  • Allelic: Spermatocytic seminoma, somatic (FGFR3)
  • Allelic: Thanatophoric dysplasia, type I + II (FGFR3)
  • Achondroplasia, homozygous (FGFR3)
  • Acrocallosal syndrome (KIF7)
  • Al-Gazali-Bakalinova syndrome (KIF7)
  • Alias: Asphyxiierende Thoraxdystrophie des Neugeborenen
  • Allelic: Bardet-Biedl syndrome 22 (IFT74)
  • Allelic: Spermatogenic failure 58 (IFT74)
  • Cardioacrofacial dysplasia 1 (PRKACA)
  • Cranioectodermal dysplasia 1 (IFT122)
  • Cranioectodermal dysplasia 2 (WDR35)
  • Cranioectodermal dysplasia 3 (IFT43)
  • Cranioectodermal dysplasia 4 (WDR19)
  • Ellis-van Creveld syndrome (EVC, EVC2)
  • Endocrine-cerebroosteodysplasia (CILK1)
  • Hydrolethalus syndrome (HYLS1)
  • Hydrolethalus syndrome 2 (KIF7)
  • Hyperparathyroidism, transient neonatal (TRPV6)
  • Joubert syndrome 10 (OFD1)
  • Joubert syndrome 12 (KIF7)
  • Joubert syndrome 21 (CSPP1)
  • Joubert syndrome 31 (CEP120)
  • Joubert syndrome 40 (IFT74)
  • Orofaciodigital syndrome I (OFD1)
  • Orofaciodigital syndrome V (DDX59)
  • Orofaciodigital syndrome XIV (C2CD3)
  • Orofaciodigital syndrome XV (KIAA9753)
  • Orofaciodigital syndrome XVI (TMEM107)
  • Orofaciodigital syndrome XVII (INTU)
  • SADDAN (FGFR3)
  • Senior-Loken syndrome 8 (WDR19)
  • Senior-Loken syndrome 9 (TRAF3IP1)
  • Short-rib thoracic dysplasia 10 with/-out polydactyly (IFT172)
  • Short-rib thoracic dysplasia 11 with/-out polydactyly (DYNC2I2 syn. WDR34)
  • 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 (DYNLT2B syn. TCTEX1D2)
  • Short-rib thoracic dysplasia 18 with polydactyly (IFT43)
  • Short-rib thoracic dysplasia 19 with/-out polydactyly (IFT81)
  • Short-rib thoracic dysplasia 2 with/-out polydactyly (IFT80)
  • Short-rib thoracic dysplasia 20 with polydactyly (INTU)
  • 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 (WDR60)
  • Short-rib thoracic dysplasia 9 with/-out polydactyly [Mainzer-Saldino syndrome] (IFT140)
  • Spondylometaphyseal dysplasia, axial (CFAP410 syn. C21orf2)
  • Spondylometaphyseal dysplasia, axial (CFAP410)
  • Weyers acrofacial dysostosis (EVC, EVC2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • digenisch
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined