Klinische FragestellungSkoliose, früh beginnend; Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein umfassendes differentialdiagnostisches Panel für Skoliose, früh beginnend, mit 12 Genen gemäß der klinischen Zeichen

SP8256

Anzahl Gene

0 Akkreditierte Untersuchung

Untersuchte Sequenzlänge

0,0 kb (Core-/Core-canditate-Gene)
- (Erweitertes Panel: inkl. additional genes)

Analyse-Dauer

auf Anfrage

Material

Diagnostische Hinweise

NGS +

Ausgewählte Gene

Keine Gene verlinkt

Synonyme

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)

OMIM-Ps

ICD10 Code

M41.0-

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