IllnessOocyte maturation defects, recurrent abortions; differential diagnosis

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

OP9753

Number of genes

0 Accredited laboratory test

Examined sequence length

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

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

No genes linked

Informations about the disease

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)

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

N96

Bioinformatics and clinical interpretation

No text defined