IllnessGluconeogenesis deficiency, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for gluconeogenessis deficiency comprising 8 and altogether 10 curated genes according to the clinical signs

GP0210

Number of genes

6 Accredited laboratory test

Examined sequence length

8,7 kb (Core-/Core-canditate-Genes)
9,8 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CA5A	918	114761	NM_001739.2	AR
FBP1	1017	611570	NM_000507.4	AR
PC	3537	608786	NM_000920.4	AR
PCK1	1869	614168	NM_002591.4	AR
PCK2	1326	614095	NM_001018073.3	AR
ALDOB	1095	612724	NM_000035.4	AR

Informations about the disease

Clinical Comment

Group of diseases

Synonyms

Alpha-methylacetoacetic aciduria (ACAT1)
Congenital disorder of glycosylation, type IIw (SLC37A4)
Congenital disorder of glycosylation, type It (PGM1)
Fructose intolerance, hereditary (ALDOB)
Fructose-1,6-bisphosphatase deficiency (FBP5)
Glycogen storage disease Ia (G6PC1)
Glycogen storage disease Ib (SLC37A4)
Glycogen storage disease Ic (SLC37A4)
Hyperammonemia due to carbonic anhydrase VA deficiency (CA5A)
PEPCK deficiency, mitochondrial (PCK2)
Phosphoenolpyruvate carboxykinase deficiency, cytosolic (PCK1)
Pyruvate carboxylase deficiency (PC)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined