IllnessAzoospermia factor [AZF]
Summary
Analysis of [partial] deletions in the AZF region of the Y chromosome
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
AY1111_DH
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
AZF-Region | 0 | n.a. |
Informations about the disease
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/
- 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)
- n.a.
Bioinformatics and clinical interpretation
No text defined