IllnessMNGIE - Mitochondriale neurogastrointestinale Enzephalomyopathie, DD

Summary

Short information

Comprehensive differential diagnostic panel for MNGIE - Mitochondrial neurogastrointestinal encephalomyopathy comprising 4 guideline-curated genes according to the clinical signs

MP9874

Number of loci

Loci type	Count
Gen	4

Accredited laboratory test

Examined sequence length

7,5 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

[Sanger]

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
MGME1	1035	615076	NM_052865.4	AR
POLG	3720	174763	NM_002693.3	AR, AD
RRM2B	1272	604712	NM_015713.5	AR
TYMP	1449	131222	NM_001953.5	AR

Informations about the disease

Clinical Comment

illness_ClinicalComment_MP9874

Synonyms

Alias: Mitochondrial neurogastrointestinal encephalopathy syndrome (TYMP)
Alias: Myoneurogastrointestinal encephalopathy (TYMP)
Alias: POLIP syndrome (TYMP)
Alias: Polyneuropathy, ophthalmoplegia, leuhencephalopathy + intestinal pseudoobstruction (TYMP)
Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
Mitochondrial DNA depletion syndrome 11 (MGME1)
Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type with renal tubulopathy] (RRM2B)
Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
Progressive external ophthalmoplegia, AD 1 (POLG)
Progressive external ophthalmoplegia, AR 1 (POLG)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined