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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessGlycosylphosphatidylinositol biosynthesis defects, differential diagnosis

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Summary

Short information

Differential diagnostic panel for Glycosylphosphatidylinositol biosynthesis defects comprising altogether 26 curated genes

ID
GP7685
Number of genes
2 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
2,7 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

GP7685_DH

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
GPAA11878NM_003801.4AR
PIGL759NM_004278.4AR

Informations about the disease

Synonyms
  • Alias: Hyperkoagulabilitätssyndrom durch Glykosylphosphatidyl-Inositol-Mangel (PIGM, PIGW)
  • CHIME syndrome (PIGL)
  • Developmental + epileptic encephalopathy 38 (ARV1)
  • Developmental + epileptic encephalopathy 55 (PIGP)
  • Developmental + epileptic encephalopathy 80 (PIGB)
  • Developmental + epileptic encephalopathy 95 (PIGS)
  • Developmental and epileptic encephalopathy 77 (PIGQ)
  • Glycosylphosphatidylinositol biosynthesis defect 11 (PIGW)
  • Glycosylphosphatidylinositol biosynthesis defect 15 (GPAA1)
  • Glycosylphosphatidylinositol biosynthesis defect 16 (PIGC)
  • Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
  • Glycosylphosphatidylinositol deficiency (PIGM)
  • Hyperphosphatasia with mental retardation syndrome 1 (PIGV)
  • Hyperphosphatasia with mental retardation syndrome 2 (PIGO)
  • Hyperphosphatasia with mental retardation syndrome 3 (PGAP2)
  • Hyperphosphatasia with mental retardation syndrome 4 (PGAP3)
  • Hyperphosphatasia with mental retardation syndrome 5 (PIGW)
  • Hyperphosphatasia with mental retardation syndrome 6 (PIGY)
  • Mental retardation, AR 53 (PIGG)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 (PIGA)
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 (PIGT)
  • Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
  • Neurodevelopmental disorder with dysmorphic features, spasticity + brain abnormalities (PGAP1)
  • Neurodevelopmental disorder with hypotonia + cerebellar atrophy, with/-out seizures (PIGK)
  • Onychodystrophy, osteodystrophy, impaired intellectual development, seizures syndrome (PIGF)
  • Paroxysmal nocturnal hemoglobinuria 2 (PIGT)
  • Paroxysmal nocturnal hemoglobinuria, somatic (PIGA)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined