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

IllnessGlobozoospermia, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Globozoospermia comprising 2 and altogether 9 curated genes according to the clinical signs

ID
GP8473
Number of genes
5 Accredited laboratory test
Examined sequence length
4,0 kb (Core-/Core-canditate-Genes)
7,6 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
DPY19L22277NM_173812.5AR
SPATA161710NM_031955.6AR
GOPC1389NM_020399.4AR
PICK11248NM_012407.4AR
SPACA1892NM_030960.3AR

Informations about the disease

Clinical Comment

Male infertility due to a large majority of round-headed spermatozoa lacking acrosomes, have an aberrant nuclear membrane + midpiece defects. Acrosomeless spermatozoa are not able to penetrate the zona pellucida, thus fertilization fails, even with intracytoplasmic sperm injection.

 

Synonyms
  • DD Spermatogenic failure: https://www.omim.org/phenotypicSeries/PS258150
  • Alias: Male infertility due to round-headed spermatozoa
  • Alias: Round-headed sperm syndrome
  • Globozoospermia assoc. (CHPT1, CCNB3, DNH6, GOPC, PICK1, PIWIL4, SPACA1, SPACDR)
  • Spermatogenic failure 6 (SPATA16)
  • Spermatogenic failure 66 (ZPBP)
  • Spermatogenic failure 67 (CCDC62)
  • Spermatogenic failure 68 (C2CD6)
  • Spermatogenic failure 69 (GGN)
  • Spermatogenic failure 9 (DPY19L2)
Heredity, heredity patterns etc.
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined