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ErkrankungOsteopetrose, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Osteopetrose mit 9 bzw. zusammen genommen 21 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
OP8642
Anzahl Gene
22 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
18,2 kb (Core-/Basis-Gene)
38,9 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CA2783AR
CLCN72418AD und/oder AR
LRP54848AD und/oder AR und/oder Dig und/oder Mult
OSTM11005AR
PLEKHM13171AD und/oder AR
SNX10606AR
TCIRG12493AR
TNFRSF11A1851AD und/oder AR und/oder Mult
TNFSF11954AR und/oder Mult
AMER13408XL
ANKH1479AD
CTSK990AR
FAM20C1755AR
FERMT31992AR
GJA11149AD und/oder AR
LEMD32736AD
PTH1R1782AD und/oder AR
RASGRP21830AR
SLC29A31428AR
SOST642AD und/oder AR und/oder Mult
TGFB11173AD und/oder AR
TYROBP309AR

Infos zur Erkrankung

Klinischer Kommentar

Gruppe seltener Skeletterkrankungen mit vermehrter Knochendichte

 

Synonyme
  • Alias: Marble bone disease; Albers-Schonberg disease
  • Allelic: Bleeding disorder, platelet-type, 18 (RASGRP2)
  • Allelic: Bone mineral density variability 1 (LRP5)
  • Allelic: Coronary artery disease, autosomal dominant, 2 (LRP6)
  • Allelic: Exudative vitreoretinopathy 4 (LRP5)
  • Allelic: Hyperostosis, endosteal (LRP5)
  • Allelic: Hypopigmentation, organomegaly, delayed myelination + development (CLCN7)
  • Allelic: Leukoencephalopathy, diffuse hereditary, with spheroids 1 (CSF1R)
  • Allelic: Osteolysis, familial expansile (TNFRSF11A)
  • Allelic: Osteoporosis (LRP5)
  • Allelic: Osteoporosis-pseudoglioma syndrome (LRP5)
  • Allelic: Osteosclerosis (LRP5)
  • Allelic: Paget disease of bone 2, early-onset (TNFRSF11A)
  • Allelic: Polycystic liver disease 4 with/-out kidney cysts (LRP5)
  • Allelic: Tooth agenesis, selective, 7 (LRP6)
  • Allelic: van Buchem disease, type 2 (LRP5)
  • Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
  • Chondrocalcinosis (ANKH)
  • Craniodiaphyseal dysplasia, AD (SOST)
  • Craniometaphyseal dysplasia (ANKH)
  • Craniometaphyseal dysplasia, AR (GJA1)
  • Endosteal hyperostosis [GeneReviews] (LRP6)
  • Histiocytosis-lymphadenopathy plus syndrome [dysosteosclerosis] (SLC29A3)
  • Leukocyte adhesion deficiency, type III (FERMT3)
  • Osteoclast-poor AR osteopetrosis
  • Osteopetrosis, AD 1 (LRP5)
  • Osteopetrosis, AD 2 (CLCN7)
  • Osteopetrosis, AD 3 (PLEKHM1)
  • Osteopetrosis, AR 1 (TCIRG1)
  • Osteopetrosis, AR 2 (TNFSF11)
  • Osteopetrosis, AR 3, with renal tubular acidosis (CA2)
  • Osteopetrosis, AR 4 (CLCN7)
  • Osteopetrosis, AR 5 (OSTM1)
  • Osteopetrosis, AR 6 (PLEKHM1)
  • Osteopetrosis, AR 7 (TNFRSF11A)
  • Osteopetrosis, AR 8 (SNX10)
  • Osteosclerotic metaphyseal dysplasia (LRRK1)
  • Pycnodysostosis (CTSK)
  • Sclerosteosis 1 (SOST)
  • Van Buchem disease [Hyperostosis corticalis generalisata] (SOST)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Mult
  • AD und/oder AR und/oder Mult
  • AR
  • AR und/oder Mult
  • XL
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
Q78.2

Bioinformatik und klinische Interpretation

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