Male Infertility Panel
Summary and Pricing
Test MethodExome Sequencing with CNV Detection
|Test Code||Test Copy Genes||Gene CPT Codes Copy CPT Codes|
|4511||ADGRG2||81479,81479||Order Options and Pricing|
|Test Code||Test Copy Genes||Panel CPT Code||Gene CPT Codes Copy CPT Code||Base Price|
|4511||Genes x (107)||81479||81173, 81222, 81223, 81400, 81403, 81404, 81405, 81406, 81407, 81479||$1350||Order Options and Pricing|
We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.
An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.
18 days on average for standard orders or 14 days on average for STAT orders.
Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.
For ordering sequencing of targeted known variants, go to our Targeted Variants page.
Clinical Features and Genetics
Infertility is a disorder of the reproductive system defined by the failure to achieve a clinical pregnancy after 12 months or more of regular unprotected sexual intercourse. It affects 10-20% of couples worldwide, with male factor infertility accounting for about half of the cases.
In humans, sexual development and reproductive function occur by the actions of the hypothalamin-pituitary-gonadal axis induced by gonadotropin releasing hormone (GnRH). Aberrations in this axis can lead to pubertal and reproductive deficiencies. Diagnoses of infertility include hypogonadotrophic hypogonadism, hypergonadotrophic hypogonadism, and obstructive disorders (Layman 2002. PubMed ID: 11897813). Male patients with hypogonadotrophic hypogonadism often present prepubertal testicular volume <4 ml, absence of secondary sexual features (facial axillary hair growth, deepening of the voice), decreased muscle mass, diminished libido and erectile dysfunction owing to low serum gonadotropin, follicle stimulating hormone (FSH), and luteinizing hormone (LH) (Balasubramanian et al. 2017. PubMed ID: 20301509). Hypergonadotrophic hypogonadism in male patients are usually caused by testicular dysfunction (oligospermia, azoospermia, or other abnormalities of sperm morphology or motility).
Infertility is a multifactorial complex condition with highly heterogeneous phenotypic representation. Genetic abnormalities including both chromosomal and single-gene alterations which can account for 15-30% of male factor infertility (Hotaling 2014. PubMed ID: 24286764). Genetic causes can be detected in all major etiologic categories of male infertility (pre-testicular, testicular and post-testicular forms). Genes and genomic regulation involved in male sexual development (SRY), testicular development (GATA4, NR5A1, NR0B1, WT1, DAX1, SOX9, ARX, ATRX), male genital tract development (AMH, AMHR1, AR, BMP4), and spermatogenesis (AURKC, SPATA16, DAZ, CFTR) have all been associated with male infertility (Miyamoto. 2015. PubMed ID: 26178295). See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.
Y chromosome microdeletion is the most common genetic cause of male infertility. For this reason, genetic testing to detect Y chromosome microdeleletions is strongly recommended in the case of a male patient with infertility. Sex chromosome aneuploidy, structural abnormality, and copy number variants (CNVs) are also common genetic causes of male infertility, and our CNV analysis enables these large cytogenetic abnormalities as well as some exon level CNVs to be identified from NGS data.
Clinical Sensitivity - Sequencing with CNV PGxome
This multi-gene panel analyzes genes involved in both syndromic and non-syndromic male infertility (Baxter 2015. PubMed ID: 25383892). The detection rate of this NGS panel in a large cohort of infertile male patients is unavailable in the literature. However, in patients with hypogonadotropic hypogonadism, 40-50% of patients have pathogenic variants in 28 genes in this panel.
At this time, the clinical sensitivity of Copy Number Variant (CNV) testing is difficult to estimate due to the lack of large cohort studies. So far, CNVs have been reported in SOX3, LHCGR, SRY, NR0B1, DMRT1, NR5A1, GATA4, WT1, WNT4, and FGFR2.
This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.
This panel typically provides 99.1% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.
Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).
Indications for Test
This test is recommended for men with genetic infertility.
This test is recommended for men with genetic infertility.
We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.
myPrevent - Online Ordering
- The test can be added to your online orders in the Summary and Pricing section.
- Once the test has been added log in to myPrevent to fill out an online requisition form.
- A completed requisition form must accompany all specimens.
- Billing information along with specimen and shipping instructions are within the requisition form.
- All testing must be ordered by a qualified healthcare provider.