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Male and Female Infertility via the FSHB 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
FSHB 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9241FSHB81479 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

Infertility affects 10-20% of couples worldwide and is generally attributed to males and females equally (Marchbanks et al. 1989). The follicle-stimulating hormone receptor signaling pathway is required for ovarian maturation and folliculogenesis in females and sperm production in males (reviewed in Layman & McDonough, 2000). The basic elements of this pathway include a follicle-stimulating hormone (FSH) ligand and an FSH receptor (FSHR). The FSH ligand is a heterodimer comprised of non-covalently joined α and β peptide chains. The α-subunit is encoded by the chorionic gonadotropin, alpha polypeptide (CGA) gene while the β-subunit is encoded by follicle-stimulating hormone, beta polypeptide (FSHB) gene. The CGA subunit is common to luteinizing hormone (LH), human chorionic gonadotropin (hCG), thyroid stimulating hormone (TSH) and FSH, but the FSHB subunit confers specificity of the hormone for FSHR. Binding of FSH to its receptor induces a cascade of events in ovarian granulosa cells and male Sertoli cells, which culminates in the transcription of genes required for folliculogenesis and spermatogenesis, respectively. Loss-of-function variants in either FSHB (OMIM 136530) or FSHR (OMIM 136435; see also the description for the FSHR test) lead to failed gametogenesis in both sexes. Women with variants in FSHB commonly display symptoms of delayed puberty, partial breast development and primary amenorrhea, while men with variants often undergo normal puberty but have azoospermia (Layman et al. 2002).


Infertility associated with FSHB variants is most often inherited in an autosomal recessive pattern, with the heterozygous family members exhibiting normal fertility (Layman et al. 1997; Phillip et al. 1998). However, in one reported case, the heterozygous mother of a child with primary amenorrhoea and infertility had been amenorrehoeic and infertile for six years prior to the unexpected conception of her child (Matthews et al. 1993), indicating that in some cases, FSHB haploinsufficiency may lead to a mild, subfertility phenotype. To date, five distinct pathogenic variants in the FSHB gene have been documented: two are missense variants (p.Cys51Gly and p.Cys82Arg), two are frameshifts (i.e. small deletions), and one is a nonsense variant (p.Tyr94*) (see www.hgmd.org).

Clinical Sensitivity - Sequencing with CNV PGxome

The clinical sensitivity of this test is unknown at this time.

Testing Strategy

This test provides full coverage of all coding exons of the FSHB 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 men with azoospermia. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in FSHB.


Official Gene Symbol OMIM ID
FSHB 136530
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Follicle-Stimulating Hormone Deficiency, Isolated AR 229070


  • Human Gene Mutation Database (Bio-base).
  • Layman, L. C., et.al. (1997). "Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene." N Engl J Med 337(9): 607-11. PubMed ID: 9271483
  • Layman, L. C., et.al. (2002). "FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia." J Clin Endocrinol Metab 87(8): 3702-7. PubMed ID: 12161499
  • Layman, L. C., McDonough, P. G. (2000). "Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype." Mol Cell Endocrinol 161(1-2): 9-17. PubMed ID: 10773385
  • Marchbanks, P. A., et.al. (1989). "Research on infertility: definition makes a difference. The Cancer and Steroid Hormone Study Group." Am J Epidemiol 130(2): 259-67. PubMed ID: 2750725
  • Matthews, C. H., et.al. (1993). "Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone." Nat Genet 5(1): 83-6. PubMed ID: 8220432
  • Phillip, M., et.al. (1998). "Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone." N Engl J Med 338(24): 1729-32. PubMed ID: 9624193


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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2) Select Additional Test Options

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