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

IllnessMPPH-Syndrom, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for MPPH syndrome comprising 3 core genes and altogether 9 curated genes according to the clinical signs

ID
MP7113
Number of genes
7 Accredited laboratory test
Examined sequence length
4,5 kb (Core-/Core-canditate-Genes)
17,8 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AKT31440NM_005465.7AD
CCND2870NM_001759.4AD
PIK3R22187NM_005027.4AD
MTOR7650NM_004958.4AD
PIK3CA3207NM_006218.4AD
PTEN1212NM_000314.8AD
STRADA1185NM_001003786.3AR

Informations about the disease

Synonyms
  • Alias: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
  • Alias: Megalencephaly-Postaxial Polydactyly-Polymicrogyria-Hydrocephalus Syndrome
  • Allelic: Focal cortical dysplasia, type II, somatic (MTOR)
  • Allelic: Holoprosencephaly 7 (PTCH1)
  • Allelic: Joubert syndrome 32 (SUFU)
  • Allelic: Medulloblastoma (SUFU)
  • Allelic: Meningioma, familial, susceptibility to (SUFU)
  • Basal cell nevus syndrome 1 (PTCH1)
  • Basal cell nevus syndrome 2 (SUFU)
  • CLAPO syndrome, somatic (PIK3CA)
  • CLOVE syndrome, somatic (PIK3CA)
  • Cowden syndrome 1 (PTEN)
  • Lhermitte-Duclos syndrome (PTEN)
  • Macrocephaly/autism syndrome (PTEN)
  • Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic (PIK3CA)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (PIK3R2)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (AKT3)
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (CCND2)
  • Polyhydramnios, megalencephaly + symptomatic epilepsy (STRADA)
  • Smith-Kingsmore syndrome (MTOR)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined