IllnessNasu-Hakola disease, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Morbus Nasu-Hakola comprising 4 curated genes according to the clinical signs

MP3334

Number of genes

4 Accredited laboratory test

Examined sequence length

1,0 kb (Core-/Core-canditate-Genes)
5,3 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

Diagnostic indications

NGS +

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
TREM2	660	605086	NM_001271821.2	AR
TYROBP	309	604142	NM_001173514.2	AR
CSF1R	2919	164770	NM_005211.4	AD, AR
MAPT	1326	157140	NM_005910.6	AD, AR

Synonyms

Alias: Osteodysplasie, lipomembranöse polyzystische sklerosierende Leukoenzephalopathie
Alias: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy, PLOSL
Allelic: Parkinson disease, susceptibility to (MAPT)
Brain abnormalities, neurodegeneration + dysosteosclerosis (CSF1R)
Dementia, frontotemporal, with/-out parkinsonism (MAPT)
Leukoencephalopathy, diffuse hereditary, with spheroids (CSF1R)
Morbus Nasu-Hakola (TREM2, TYROBP)
Pick disease (MAPT)
Supranuclear palsy, progressive (MAPT)
Supranuclear palsy, progressive atypical (MAPT)

Heredity, heredity patterns etc.

OMIM-Ps

ICD10 Code

No text defined