©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessArterial-Tortuosity syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Arterial-Tortuosity syndrome containing 1 core gene and altogether 27 curated genes according to the clinical signs

ID
AP9230
Number of genes
27 Accredited laboratory test
Examined sequence length
1,7 kb (Core-/Core-canditate-Genes)
76,5 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
SLC2A101626NM_030777.4AR
ACTA21134NM_001613.4AD
ALDH18A12388NM_002860.4AD, AR
ATP7A4503NM_000052.7XLR
BGN1107NM_001711.6XL
COL3A14401NM_000090.4AD
EFEMP21332NM_016938.5AR
FBLN51347NM_006329.4AD
FBN18616NM_000138.5AD
FKBP14636NM_017946.4AR
FOXE3960NM_012186.3AD
HCN43612NM_005477.3AD
LOX1254NM_002317.7AD
LTBP44763NM_003573.2AR
MAT2A1188NM_005911.6AD
MFAP5522NM_003480.4AD
MYH115919NM_002474.3AD
MYLK5745NM_053025.4AD
PLOD12184NM_000302.4AR
PRKG12061NM_006258.4AD
SMAD21404NM_005901.6AD
SMAD31278NM_005902.4AD
TGFB21245NM_003238.6AD
TGFB31239NM_003239.5AD
TGFBR11512NM_004612.4AD
TGFBR21704NM_003242.6AD
TNXB12729NM_019105.8AR

Informations about the disease

Synonyms
  • Aortic aneurysm, familial thoracic 10 (LOX)
  • Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
  • Aortic aneurysm, familial thoracic 4 (MYH11)
  • Aortic aneurysm, familial thoracic 6 (ACTA)
  • Aortic aneurysm, familial thoracic 7 (MYLK)
  • Aortic aneurysm, familial thoracic 8 (PRKG1)
  • Aortic aneurysm, familial thoracic 9 (MFAP5)
  • Arterial tortuosity syndrome (SLC2A1)
  • Cutis laxa, AD 2 (FBLN5)
  • Cutis laxa, AD 3 (ALDH18A1)
  • Cutis laxa, AR, type IA (FBLN5)
  • Cutis laxa, AR, type IB (EFEMP2)
  • Cutis laxa, AR, type IC (LTBP4)
  • Cutis laxa, AR, type IIIA (ALDH18A1)
  • Ehlers-Danlos syndrome, classic-like, 1 (TNXB)
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 1 (PLOD1)
  • Ehlers-Danlos syndrome, kyphoskoliotic (FKBP1A)
  • Ehlers-Danlos syndrome, vascular type (COL3A1)
  • Heritable thoracic aortic disease (HCN4, MAT2A)
  • Loeys-Dietz syndrome 1 (TGFBR1)
  • Loeys-Dietz syndrome 2 (TGFBR2)
  • Loeys-Dietz syndrome 3 (SMAD3)
  • Loeys-Dietz syndrome 4 (TGFB2)
  • Loeys-Dietz syndrome 5 (TGFB3)
  • Loeys-Dietz syndrome [MONDO] (SMAD2)
  • MASS syndrome (FBN1)
  • Marfan syndrome (FBN1)
  • Meester-Loeys syndrome (BGN)
  • Moyamoya disease 5 (ACTA2)
  • Occipital horn syndrome (ATP7A)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined