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

IllnessAbetalipoproteinaemia

Summary

Short information

Curated single gene sequencing according to the clinical suspicion Abetalipoproteinemia

ID
AS1234
Number of genes
1 Accredited laboratory test
Examined sequence length
2,7 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

Sanger

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
MTTP2685NM_000253.4AR

Informations about the disease

Clinical Comment

Severe, familial hypobetalipoproteinemia with permanent low levels (<5th percentile) of apolipoprotein B and LDL cholesterol, by growth delay, malabsorption, hepatomegaly, neurological + neuromuscular manifestations

 

Synonyms
  • Alias: Abetalipoproteinemia (MTTP)
  • Alias: Bassen-Kornzweig syndrome (MTTP)
  • Allelic: Hypobetalipoproteinemia, familial, homozygous (MTTP)
  • Allelic: Metabolic syndrome, protection against (MTTP)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
ICD10 Code
E78.-

Bioinformatics and clinical interpretation

No text defined