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IllnessFructose-1,6-biphosphatase deficiency, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Fructose-1,6-biphosphatase deficiency comprising 7 curated genes according to the clinical signs

ID
FP9338
Number of loci
Loci typeCount
Gen7
Accredited laboratory test
Examined sequence length
1,1 kb (Core-/Core-canditate-Genes)
11,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci panel

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
FBP11017NM_000507.4AR
ACAT11284NM_000019.4AR
ALDOB1095NM_000035.4AR
G6PC11074NM_000151.4AR
PC3537NM_000920.4AR
PGM11743NM_002633.3AR
SLC37A41291NM_001164277.2AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_FP9338

 

Synonyms
  • Alias: Fructose-1,6-diphosphatase deficiency (FBP1)
  • Alpha-methylacetoacetic aciduria (ACAT1)
  • Congenital disorder of glycosylation, type It (PGM1)
  • Fructose intolerance, hereditary (ALDOB)
  • Glycogen storage disease Ia (G6PC1)
  • Glycogen storage disease Ib + Ic (SLC37A4)
  • Pyruvate carboxylase deficiency (PC)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined