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

IllnessPrimrose syndrome, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Primrose syndrome containing 1 core gene and altogether 7 curated genes according to the clinical signs

ID
PP3332
Number of genes
7 Accredited laboratory test
Examined sequence length
2,3 kb (Core-/Core-canditate-Genes)
22,3 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
ZBTB202226NM_001164342.2AD
FMR11899NM_002024.6XL
GPC31743NM_004484.4XLR
GPC41671NM_001448.3XLR
NSD18091NM_022455.5AD
PTEN1212NM_000314.8AD
SHANK35386NM_001372044.2AD

Informations about the disease

Synonyms
  • Alias: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
  • Allelic: Fragile X tremor/ataxia syndrome (FMR1_CCG)
  • Allelic: Glioma susceptibility 2 (PTEN)
  • Allelic: Meningioma (PTEN)
  • Allelic: Premature ovarian failure 1 (FMR1_CCG)
  • Allelic: Prostate cancer, somatic (PTEN)
  • Allelic: Schizophrenia 15 (SHANK3)
  • Allelic: Wilms tumor, somatic (GPC3)
  • Cowden syndrome 1 (PTEN)
  • Fragile X syndrome (FMR1_CCG)
  • Keipert syndrome (GPC4)
  • Lhermitte-Duclos syndrome (PTEN)
  • Macrocephaly/autism syndrome (PTEN)
  • Phelan-McDermid syndrome (SHANK3)
  • Primrose syndrome (ZBTB20)
  • Simpson-Golabi-Behmel syndrome, type 1 (GPC3)
  • Sotos syndrome 1 (NSD1)
Heredity, heredity patterns etc.
  • AD
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined