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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessEmbryonaler Arrest

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Summary

Short information

A comprehensive panel for the differential diagnosis concerning oocyte maturation defecta/recurrent pregnancy losses containing 21 curated genes qaccording to the clinical suspicion

ID
OP9753
Number of loci
Locus typeCount
Gen 30
Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
52,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Loci

Gen

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ASTL1375NM_001002036.4
BTG4862NM_017589.4AR
CCNP924NM_024877.4-
CDC201510NM_001255.3
FBXO432314NM_001029860.4-
KHDC3L654NM_001017361.3AR
KPNA71551NM_001145715.3-
LHCGR2100NM_000233.4-
MEI14077NM_152513.4AR
MEI41162NM_001282136.3-
MOS1042NM_005372.1AR
NLRP23189NM_017852.5AD, AR
NLRP53603NM_153447.4AD, AR
NLRP73114NM_001127255.2AR
PABPC1L1859NM_001372179.1-
PADI62086NM_207421.4AR
PANX11286NM_015368.4AR
PATL22006NM_001145112.2AR
REC114862NM_001042367.2AR
TBPL21135NM_199047.3-
TLE61719NM_001143986.2AR
TRIP13870NM_001166260.2AR
TUBA1C1689NM_032704.5-
TUBA4A1347NM_006000.3-
TUBB81479NM_177987.3AR
WEE21716NM_001105558.1AR
ZFP36L21485NM_006887.5-
ZP11917NM_207341.4AR
ZP22290NM_003460.2AR
ZP31283NM_001110354.2AR

Informations about the disease

Clinical Comment

Der embryonale Arrest (Early Embryonic Arrest, EEA) bezeichnet einen wiederholten Entwicklungsstillstand von Embryonen in den frühen präimplantativen Entwicklungsstadien und stellt eine bedeutende Ursache weiblicher Infertilität sowie wiederholter IVF-/ICSI-Misserfolge dar. In den letzten Jahren konnten zahlreiche genetische Ursachen identifiziert werden. Die untersuchten Gene sind vor allem an der Eizellfunktion, der Befruchtung, den ersten Zellteilungen und der frühen Embryonalentwicklung beteiligt. Pathogene Varianten können zu einem wiederholten Entwicklungsstillstand von Embryonen führen.

Quellen:

Chen et al. 2026 PMID: 41005306

Tüttelmann et al. 2025 PMID: 39836465

 

Synonyms
  • Alias: Miscarriage
  • Alias: Oocyte maturation defect
  • Alias: Recurrent prgnancy loss
  • Allelic: Spermatogenic failure 64 (FBXO43)
  • "Female infertility" (MOS)
  • "Female infertility" (NLRP2)
  • "Female infertility" (NLRP5)
  • Hydatidiform mole, recurrent, 1 (NLRP7)
  • Hydatidiform mole, recurrent, 2 (KHDC3L)
  • Hydatidiform mole, recurrent, 3 (MEI1)
  • Mosaic variegated aneuploidy syndrome 3 (TRIP13)
  • Oocyte maturation defect 1 (ZP1)
  • Oocyte maturation defect 10 (REC114)
  • Oocyte maturation defect 11 (ASTL)
  • Oocyte maturation defect 12 (FBXO43)
  • Oocyte maturation defect 14 (CDC20)
  • Oocyte maturation defect 2 (TUBB8)
  • Oocyte maturation defect 3 (ZP3)
  • Oocyte maturation defect 4 (PATL2)
  • Oocyte maturation defect 5 (WEE2)
  • Oocyte maturation defect 6 (ZP2)
  • Oocyte maturation defect 7 (PANX1)
  • Oocyte maturation defect 8 (BTG4)
  • Oocyte maturation defect 9 (TRIP13)
  • Preimplantation embryonic lethality (TLE6)
  • Preimplantation embryonic lethality 2 (PADI6)
Heredity, heredity patterns etc.
  • -
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined