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

IllnessHutchinson-Gilford progeria syndrome; differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Hutchinson-Gilford progeria syndrome comprising 2 core or core candidate genes and altogether 16 curated genes according to the clinical signs

ID
HP1773
Number of genes
14 Accredited laboratory test
Examined sequence length
3,5 kb (Core-/Core-canditate-Genes)
28,0 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
LMNA1995NM_170707.4AD
ZMPSTE241428NM_005857.5AR
AGPAT2837NM_006412.4AR
B4GALT7984NM_007255.3AR
BANF1270NM_001143985.1AR
BSCL21197NM_032667.6AR
ERCC64482NM_000124.4AR
ERCC81191NM_000082.4AR
GORAB1185NM_152281.3AR
PDGFRB3321NM_002609.4AD
POLR3A4173NM_007055.4AR
PYCR1960NM_006907.4AR
SLC25A241650NM_013386.5AD
WRN4299NM_000553.6AR

Informations about the disease

Synonyms
  • Allelic: Basal ganglia calcification, idiopathic, 4 (PDGFRB)
  • Allelic: Cardiomyopathy, dilated, 1A (LMNA)
  • Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
  • Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
  • Allelic: Heart-hand syndrome, Slovenian type (LMNA)
  • Allelic: Kosaki overgrowth syndrome (PDGFRB)
  • Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
  • Allelic: Malouf syndrome (LMNA)
  • Allelic: Mandibuloacral dysplasia (LMNA)
  • Allelic: Muscular dystrophy, congenital (LMNA)
  • Allelic: Myeloproliferative disorder with eosinophilia (PDGFRB)
  • Allelic: Myofibromatosis, infantile, 1 (PDGFRB)
  • Allelic: Neuropathy, distal hereditary motor, type VC (BSCL2)
  • Allelic: Premature ovarian failure 11 (ERCC6)
  • Allelic: Restrictive dermopathy, lethal (LMNA)
  • Allelic: Silver spastic paraplegia syndrome (BSCL2)
  • Allelic: UV-sensitive syndrome 1 (ERCC6)
  • Allelic: UV-sensitive syndrome 2 (ERCC8)
  • Cerebrooculofacioskeletal syndrome 1 (ERCC6)
  • Cockayne syndrome, type A (ERCC8)
  • Cockayne syndrome, type B (ERCC6)
  • Cutis laxa, AR, type IIB + IIIB (PYCR1)
  • De Sanctis-Cacchione syndrome (ERCC6)
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 (B4GALT7)
  • Emery-Dreifuss muscular dystrophy 1, XL (EMD)
  • Encephalopathy, progressive, with/-out lipodystrophy (BSCL2)
  • Fontaine progeroid syndrome (SLC25A24)
  • Geroderma osteodysplasticum (GORAB)
  • Hemophagocytic lymphohistiocytosis, familial, 1 (FHL1)
  • Hutchinson-Gilford progeria (LMNA)
  • Leukodystrophy, hypomyelin., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
  • Lipodystrophy, congenital generalized, type 1 (AGPAT2)
  • Lipodystrophy, congenital generalized, type 2 (BSCL2)
  • Lipodystrophy, familial partial, type 2 (LMNA)
  • Mandibuloacral dysplasia (LMNA)
  • Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
  • Nestor-Guillermo progeria syndrome (BANF1)
  • Premature aging syndrome, Penttinen type (PDGFRB)
  • Restrictive dermopathy, lethal (ZMPSTE24)
  • Werner syndrome (WRN)
  • Wiedemann-Rautenstrauch syndrome (POLR3A)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined