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Male Infertility via the CATSPER1 Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
9875 CATSPER1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9875CATSPER181479 81479,81479 $890 Order Options and Pricing

Pricing Comments

Our favored testing approach is exome based NextGen sequencing with CNV analysis. This will allow cost effective reflexing to PGxome or other exome based tests. However, if full gene Sanger sequencing is desired for STAT turnaround time, insurance, or other reasons, please see link below for Test Code, pricing, and turnaround time information. If the Sanger option is selected, CNV detection may be ordered through Test #600.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

Click here for costs to reflex to whole PGxome (if original test is on PGxome Sequencing backbone).

Click here for costs to reflex to whole PGnome (if original test is on PGnome Sequencing backbone).

The Sanger Sequencing method for this test is NY State approved.

For Sanger Sequencing click here.

Turnaround Time

18 days on average for standard orders or 13 days on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Male infertility is a reproductive disorder affecting 10-20% of couples worldwide. CATSPER1-related male infertility is a heritable form of nonsyndromic male infertility (NSMI). This condition results from abnormalities in sperm. Routine semen analysis from affected individuals typically identifies sperm defects and reduced fertility suggestive of asthenozoospermia. Men with CATSPER1-related NSMI showed normal pH, but nonmotile sperm or sperm motility below the normal threshold, low sperm count, increased abnormally structured spermatozoa, and reduced semen volume (Avenarius et al. 2009). Men with CATSPER1-related NSMI do not have any other symptoms.

Genetics

CATSPER1-related nonsyndromic male infertility is inherited in an autosomal recessive manner. At least two loss-of-function variants in CATSPER1 have been identified to cause this condition. The CATSPER1 protein belongs to a CATSPER family of four sperm-specific voltage-gated calcium channels. CATSPER1 is expressed exclusively in the testis, and is localized primarily to the principal piece of the sperm tail (Ren et al. 2001). It was demonstrated that the CATSPER1 protein is required for Ca2+ entry into the sperm cell and Ca2+-mediated hyperactivated sperm motility (Ren et al. 2001; Carlson et al. 2003). The two known insertion variants in CATSPER1 were thought to result in the production of a severely truncated CATSPER1 protein that lacks all transmembrane domains and the channel pore. As a result, sperm cells missing the functional CATSPER1 protein were unable to penetrate the egg and achieve fertilization (Avenarius et al. 2009; Hildebrand et al. 2010).

Clinical Sensitivity - Sequencing with CNV PGxome

CATSPER1 pathogenic variants have only been identified in two unrelated families with male infertility (Avenarius et al. 2009).

To date, no large deletions or duplications have been reported involving CATSPER1 (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the CATSPER1 gene 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 full coverage as >20X NGS reads or Sanger sequencing. PGnome panels typically provide slightly increased coverage over the PGxome equivalent. PGnome sequencing panels have the added benefit of additional analysis and reporting of deep intronic regions (where applicable).

Dependent on the sequencing backbone selected for this testing, discounted reflex testing to any other similar backbone-based test is available (i.e., PGxome panel to whole PGxome; PGnome panel to whole PGnome).

Indications for Test

Candidates for this test are individuals with clinical features of male factor infertility and abnormal semen analysis especially asthenozoospermia. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in CATSPER1.

Gene

Official Gene Symbol OMIM ID
CATSPER1 606389
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
CATSPER-Related Male Infertility AR 612997

Citations

  • Avenarius M.R. et al. 2009. American Journal of Human Genetics. 84: 505-10. PubMed ID: 19344877
  • Carlson A.E. et al. 2003. Proceedings of the National Academy of Sciences of the United States of America. 100: 14864-8. PubMed ID: 14657352
  • Hildebrand M.S. et al. 2010. European Journal of Human Genetics. 18: 1178-84. PubMed ID: 20648059
  • Human Gene Mutation Database (Bio-base).
  • Ren D. et al. 2001. Nature. 413: 603-9. PubMed ID: 11595941

Ordering/Specimens

Ordering Options

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.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

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.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Method (Backbone)


1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
Total Price: $
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