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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 comprising 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-GHeredity
ZBTB202226AD
FMR11899XL
GPC31743XLR
GPC41671XLR
NSD18091AD
PTEN1212AD
SHANK35386AD

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
Q87.-

Bioinformatics and clinical interpretation

No text defined