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Interdisciplinary CompetenceMolecular Diagnostics
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IllnessAzoospermia factor [AZF]

Summary

Short information

Analysis of [partial] deletions in the AZF region of the Y chromosome

ID
AY1111
Number of genes
1 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

AY1111_DH

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AZF-Region0n.a.

Informations about the disease

Clinical Comment

Male infertility can be characterised by the absence of a measurable amount of sperm in the ejaculate (azoospermia) or a number of sperm in the ejaculate below 15 million / ml (oligozoospermia). The sperm morphology may be normal. In obstructive azoospermia, spermatozoa are produced, but they cannot mix with the rest of the fluid in the ejaculate because of an obstruction of the seminal ducts. In non-obstructive azoospermia, spermatogenesis itself is disturbed. Among the known genetic causes (responsible for a third of all cases) of azoospermia or oligospermia are deletions of the AZF region of the Y chromosome and - more rarely - mutations of individual genes.

(Basic diagnostic genes: ###; additional gene: ###).

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583155/

 

Synonyms
  • AZF regions
  • Alias: Spermatogenic failure, Y-linked, 2
  • Azoospermia, nonobstructive, YL (AZF region)
  • Hypospermatogenesis (AZF region)
  • Oligospermia, nonobstructive, YL (AZF region)
  • Oligozoospermia, nonobstructive, YL (AZF region)
  • Spermatogenic arrest, YL (AZF region)
  • Spermatogenic failure, nonobstructive, YL (AZF region)
Heredity, heredity patterns etc.
  • n.a.
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined