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Ovarian Dysgenesis and Ovarian Hyperstimulation Syndrome via the FSHR 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
FSHR 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11871FSHR81479 81479,81479 $990 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 platform).

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

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

For Sanger Sequencing click here.

Turnaround Time

3 weeks on average for standard orders or 2 weeks 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.


Genetic Counselors


  • Fang Xu, PhD, FACMG

Clinical Features and Genetics

Clinical Features

Ovarian Dysgenesis 1 (ODG1), also called XX Gonadal Dysgenesis (XX GD), is an autosomal recessive disease caused by pathogenic variants in the Follicle-Stimulating Hormone Receptor gene (FSHR) (Aittomaki et al. 1995. PubMed ID: 7553856). The classical features of ODG1 are poorly developed streak ovaries and primary amenorrhea in conjunction with a normal 46,XX karyotype (Aittomaki, 1994. PubMed ID: 8178824). However, pathogenic variants in FSHR can also cause secondary amenorrhea in the absence of any apparent pubertal defects (Touraine et al. 1999. PubMed ID: 10551778) and varying degrees of oligozoospermia or teratozoospermia in men (Tapanainen et al. 1997. PubMed ID: 9020851). All patients with FSHR pathogenic variants, both men and women, exhibit elevated circulating levels of follicle-stimulating hormone (FSH).

Although inactiving pathogenic variants in FSHR result in ODG1, activating pathogenic variants cause Ovarian Hyperstimulation Syndrome (OHSS). More than one million couples worldwide seek reproductive assistance each year because of infertility (Chandra et al. 2005. PubMed ID: 16532609; Nyboe Andersen et al. 2009. PubMed ID: 19225009). In at least 75% of the cases, ovarian stimulation, to induce the development of multiple dominant follicles and maturation of many oocytes, is an integral part of the treatment regimen. Typically, ovarian stimulation is achieved by administering exogenous human Menopausal Gonadotropin (hMG), a natural mixture of follicle-stimulating hormone (FSH), luteinizing hormone (LH) and human chorionic gonadotropin (hCG) (Macklon et al. 2006. PubMed ID: 16434510). OHSS is an iatrogenic complication due to the exogenous administration of hMG and affects upwards of 5% of all women undergoing treatment for infertility (Delvigne and Rozenberg. 2002. PubMed ID: 12498425; Abramov et al. 1999. PubMed ID: 10469676). In addition, OHSS can spontaneously occur in women during the third month of an otherwise normal pregnancy. In these cases, increased endogenous levels of hCG from the ongoing pregnancy is thought to be the cause (Elchalal and Schenker. 1997. PubMed ID: 9221989). The primary symptoms of OHSS are abdominal discomfort, nausea, vomiting and diarrhea due to enlarged polycystic ovaries. In the most severe instances, rupture and hemorrhaging of ovarian cysts, organ failure and death can occur (Delvigne and Rozenberg. 2003. PubMed ID: 12638783).


To date, over thirty pathogenic variants have been described for the Follicle-Stimulating Hormone Receptor (FSHR) gene (Human Gene Mutation Database). Homozygous or compound heterozygous strong inactivating pathogenic variants, such as p.Ala189Val, p.Pro587His or a deletion of exons 9-10 cause Ovarian Dysgenesis, characterized by symptoms of primary amenorrhea, delayed or incomplete pubertal development, and small immature ovaries (Aittomaki et al. 1995. PubMed ID: 7553856; Kuechler et al. 2010. PubMed ID: 20087398). By contrast, weaker pathogenic variants, such as p.Arg573Cys or p.Leu601Val, exhibit some residual (5-25%) receptor activity and much milder symptoms, primary or secondary amenorrhea with apparently normal pubertal development (Touraine et al. 1999. PubMed ID: 10551778). Due to a likely founder effect, the p.Ala189Val pathogenic variant has a relatively high frequency (~1%) in the Finnish population, but is very rare in all other tested populations (Jiang et al. 1998. PubMed ID: 9851774). The frequencies of other FSHR pathogenic variants have not been reported. Pathogenic variants in FSHR are the most common cause of recessively inherited Ovarian Dysgenesis.

Men homozygous for the strong inactivating pathogenic variant p.Ala189Val are healthy and normally masculinized, but have low testicular volume and abnormal sperm parameters (Tapanainen et al. 1997. PubMed ID: 9020851). Currently, no other FSHR pathogenic variants have been described in males.

OHSS can be caused by dominant pathogenic variants in the Follicle Stimulating Hormone Receptor gene (FSHR). Normally, the FSHR protein is exclusively activated by FSH. However, changes at a few amino acids (Ser128, Thr449, Ile545, and Asp567) of FSHR decrease its specificity for FSH and increase its sensitivity to other hormones, such as LH and hCG (De Leener et al. 2008. PubMed ID: 17721928; De Leener et al. 2006. PubMed ID: 16278261; Smits et al. 2003. PubMed ID: 12930928; Vasseur et al. 2003. PubMed ID: 12930927). Thus, patients who have a heterozygous pathogenic variant of one of these amino acids are likely to develop OHSS during the course of treatment for infertility, particularly if hMG is used to stimulate ovulation.

Clinical Sensitivity - Sequencing with CNV PGxome

In Finland, forty percent of women with amenorrhea are predicted to have a pathogenic variant in the FSHR gene (Reindollar and McDonough. 1984. PubMed ID: 6379174; Aittomaki. 1994. PubMed ID: 8178824).

Testing Strategy

This test provides full coverage of all coding exons of the FSHR 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 women with primary or secondary amenorrhea and normal 46,XX karyotype, and men with oligozoospermia or teratozoospermia and normal 46,XY karyotype.

This test is also for women who will receive exogenous hMG during the course of treatment for infertility and women with symptoms of spontaneous OHSS.

This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FSHR.


Official Gene Symbol OMIM ID
FSHR 136435
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Tests

Female Infertility Panel
Premature Ovarian Failure (POF) Panel


  • Abramov et al. 1999. PubMed ID: 10469676
  • Aittomaki et al. 1995. PubMed ID: 7553856
  • Aittomaki. 1994. PubMed ID: 8178824
  • Aittomaki. 1994. PubMed ID: 8178824
  • Chandra et al. 2005. PubMed ID: 16532609
  • De Leener et al. 2006. PubMed ID: 16278261
  • De Leener et al. 2008. PubMed ID: 17721928
  • Delvigne and Rozenberg. 2002. PubMed ID: 12498425
  • Delvigne and Rozenberg. 2003. PubMed ID: 12638783
  • Elchalal and Schenker. 1997. PubMed ID: 9221989
  • Human Gene Mutation Database (Biobase).
  • Jiang. 1998. PubMed ID: 9851774
  • Kuechler et al. 2010. PubMed ID: 20087398
  • Macklon et al. 2006. PubMed ID: 16434510
  • Nyboe Andersen et al. 2009. PubMed ID: 19225009
  • Reindollar and McDonough. 1984. PubMed ID: 6379174
  • Smits et al. 2003. PubMed ID: 12930928
  • Tapanainen et al. 1997. PubMed ID: 9020851
  • Touraine et al. 1999. PubMed ID: 10551778
  • Vasseur et al. 2003. PubMed ID: 12930927


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

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

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