IllnessAbetalipoproteinaemia

Summary

Short information

Guideline-curated single gene sequencing according to the clinical suspicion Abetalipoproteinemia [including 2 additional genes relevant for differential diagnostic purposes]

AS1234

Number of genes

2 Accredited laboratory test

Examined sequence length

2,7 kb (Core-/Core-canditate-Genes)
16,4 kb (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	157147	NM_000253.4	AR
APOB	13692	107730	NM_000384.3	AD, 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.

OMIM-Ps

200100

ICD10 Code

Bioinformatics and clinical interpretation

No text defined