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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessFailure to implant, recurrent; differential diagnosis

Summary

Short information

A panel containing 19 genes for the comprehensive analysis of the genetically caused forms of implantation failure

ID
IP7000
Number of genes
13 Accredited laboratory test
Examined sequence length
0,0 kb (Core-/Core-canditate-Genes)
19,1 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

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ALPP1608NM_001632.5Mult
APOE954NM_000041.4AD, AR, Mult
E2F41242NM_001950.4Mult
ESR11788NM_000125.4n.k.
KHDC3L654NM_001017361.3AR
LIF267NM_001257135.2Mult
PADI62086NM_207421.4AR
PGR2802NM_000926.4AR
PTGS21815NM_000963.4Mult
TLE61719NM_001143986.2AR
TP531182NM_000546.6AD
VEGFA1239NM_001025366.3Sus
WEE21716NM_001105558.1AR

Informations about the disease

Clinical Comment

In implantation failure, women show no signs of egg implantation, sometimes despite of hCG production. In recurrent implantation failure (RIF), patients have at least three failed cycles of in-vitro fertilization, even after transfer of "good quality" embryos. RIF may be due to uterine, male or embryonic factors, possibly also by protocol parameters of in-vitro fertilization. Female factors in implantation failure may be caused by, for example, anatomic conditions, thrombophilia, abnormalities in endometrial receptivity and immune-related causes, all potentially related to genetic factors. The role of environmental and lifestyle factors, immunologic abnormalities, psychological disorders and infections is well known in the context of RIF. The role of genetic factors, particularly complex multifactorial processes, is not fully understood, but most often multifactorial causes are involved. Here, we analyze genes for which evidence exists for involvement in RIF. A negative molecular genetic finding is by no means an exclusion of genetic factors causing implantation failure.

Reference: https://doi.org/10.1016/j.genrep.2020.100685

 

Synonyms
  • Alias: Pregnancy loss, recurrent; RPL
  • Alias: Recurrent implantation failure, RIF
  • Allelic: Breast cancer, somatic (ESR1)
  • Allelic: Li-Fraumeni syndrome (TP53)
  • Allelic: Migraine, susceptibility to (ESR1)
  • Allelic: Myocardial infarction, susceptibility to (ESR1)
  • Bone marrow failure syndrome 5 (TP53)
  • Estrogen resistance (ESR1)
  • Homocystinuria due to MTHFR deficiency (MTHFR)
  • Hydatidiform mole, recurrent, 2 (KHDC3L)
  • Hyperlipoproteinemia, type III (APOE)
  • MTHFR deficiency, disorders of folate metabolism + transport [panelapp] (MTHFR)
  • Microvascular complications of diabetes 1 (VEGFA)
  • Oocyte maturation defect 5 (WEE2)
  • Pregnancy loss, recurrent, 4 (SYCP3)
  • Pregnancy loss, recurrent, susceptibility to, 1 (F5)
  • Pregnancy loss, recurrent, susceptibility to, 2 (F2)
  • Pregnancy loss, recurrent, susceptibility to, 3 (ANXA5)
  • Preimplantation embryonic lethality (TLE6)
  • Preimplantation embryonic lethality 2 (PADI6)
  • Progesterone resistance (PGR)
  • Spermatogenic failure 4 (SYCP3)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mult
  • Sus
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined