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The Male Infertility Panel

¿WHAT IS THE MALE INFERTILITY PANEL?

The Male Infertility Panel is a comprehensive next-generation sequencing (NGS) panel that analyzes genes associated with increased risks for male infertility, including Y chromosome microdeletions, congenital absence of the vas deferens, sex chromosome aneuploidy, and other causes of male factor infertility.

1Y Chromosome Microdeletions.
2Congenital Absence of the Vas Deferens (CAVD)
3Sex Chromosome Aneuploidy
4Other Male Factor Infertility

Y CHROMOSOME MICRODELETIONS

Y chromosome microdeletions are deletions of the region of the Y chromosome, called the azoospermia factor (AZF), which encode genes that are important for male fertility.

A deletion in these regions can cause severely reduced sperm production (oligospermia) or absent sperm production (azoospermia). Y chromosome microdeletions are one of the most common causes of infertility in men, and are identified in approximately 3-15% of men with nonobstructive azoospermia and approximately 10% of men with severe oligospermia. Overall, Y chromosome microdeletions occur in 1 in 2000 to 1 in 3000 males

INCLUDED DISORERS:
Y chromosome microdeletions

INHERITANCE:
Y chromosome microdeletions typically occur de novo (for the first time) in affected individuals. Since Y chromosome microdeletions typically cause male infertility, they are usually not passed down to next generations.
However, any males conceived via assisted reproductive technology using the sperm of an affected man will also carry the same Y chromosome microdeletion.

REGION ASSAYED:
AZF region of the Y chromosome

CONGENITAL ABSENCE OF THE VAS DEFERENS

Biallelic pathogenic variants in the CFTR gene are associated with a spectrum of disorders, including classic cystic fibrosis, atypical cystic fibrosis, and congenital absence of the vas deferens (CAVD).

Congenital absence of the vas deferens typically occurs when an individual has one severe pathogenic variant, and one mild pathogenic variant in the CFTR gene.

Congenital absence of the vas deferens occurs when an individual is born without the vas deferens, which transports sperm from the epididymis to the ejaculatory ducts.

CAVD accounts for 25% of obstructive azoospermia, and approximately 80% of men with obstructive azoospermia carry at least one pathogenic CFTR variant.

INCLUDED DISORERS:
Congenital absence of the vas deferens (CAVD), Cystic fibrosis (CF)

INHERITANCE:
CFTR-related disorders, including cystic fibrosis and congenital absence of the vas deferens are inherited in an autosomal recessive fashion.

INCLUDED GENE:
CFTR

SEX CHROMOSOME ANEUPLOIDY

Sex chromosome aneuploidy is the presence of an abnormal number of sex chromosomes.

Male individuals typically have 46 chromosomes, including one X chromosome and one Y chromosome, while females typically have 46 chromosomes, including two X chromosomes.

The most common sex chromosome aneuploidy identified in males is Klinefelter syndrome, which occurs in approximately 1 in 500 males and is the most common genetic cause of non-obstructive azoospermia identified in infertile males

Males with Klinefelter may have delayed or incomplete puberty, gynecomastia, reduced facial and and body, and reduced fertility.

INCLUDED DISORERS:
Klinefelter syndrome, other sex chromosome abnormalities

INHERITANCE:
Sex chromosome aneuploidies are typically not inherited but rather occur as random errors that occur during cell division in the formation of sperm and egg cells in a parent.

ASSAYED REGIONS:
X and Y chromosomes

OTHER MALE FACTOR INFERTILITY

Male factor infertility may be caused by disorders of male sexual development, spermatogenic failure, or hormonal problems.

A variety of syndromic and nonsyndromic forms of oligospermia and azoospermia are caused by genetic disorders.

This panel tests for genetic disorders resulting in male infertility that is not caused by other genetic causes (sex chromosome aneuploidy, y chromosome microdeletions, CBAVD).

INCLUDED DISORERS:
Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, 46,XY sex reversal, Androgen insensitivity syndrome

INHERITANCE:
The disorders included in this panel are inherited in autosomal dominant, autosomal recessive, X-linked, and Y-linked manners.

INCLUDED GENE(S) (9):
AR - AURKC - CATSPER1 - DYP19L2 - FSHB - FSHR - LHCGR - SRY - USP9Y

EMERGING EVIDENCE GENES (10):
CATSPER2 - DDX25 - LHB - PRDM9 - NR5A1 - PRM1 - USP26 - DAZL