Deutsch
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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Sanger
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| MTTP | 2685 | NM_000253.4 | AR |
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