Premature Ovarian Failure via the PSMC3IP 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
11875 PSMC3IP 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11875PSMC3IP81479 81479(x2) $890 Order Options and Pricing

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).

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

Premature Ovarian Failure (POF), also known as primary ovarian insufficiency (POI), is a genetically and phenotypically heterogeneous disorder characterized by primary amenorrhea or loss of menstrual function before the age of 40. Patients with POF often have elevated levels of follicle-stimulating hormone (FSH) and decreased levels of estrogen (Nelson. 2009. PubMed ID: 19196677). POF, in the most severe form, is a result of ovarian dysgenesis in which pubertal development is also severely affected. Approximately 50% of patients have varying and unpredictable ovarian function, and 5 to 10% of patients with POF may conceive without treatment (Nelson. 2009. PubMed ID: 19196677). There are several causes of premature ovarian failure, including chromosomal abnormalities, pathogenic sequence variants, autoimmune disorder, and environmental factors. POF can be isolated or part of a genetic syndrome (Kovanci and Schutt. 2015. PubMed ID: 25681846).

Genetics

Approximately 10-30% of POF cases have familial inheritance (Vegetti et al. 1998. PubMed ID: 9740426; van Kasteren et al. 1999. PubMed ID: 10527968). The inheritance can be autosomal recessive, dominant or X-linked. Proteasome 26S subunit, ATPase, 3-Interacting Protein (PSMC3IP) is a nuclear, tissue-specific protein with multiple functions. It is critical for meiotic recombination and acts as a coactivator of ligand dependent transcription mediated by nuclear receptors, including the estrogen receptors (ER) and the androgen receptor. A homozygous 3-bp deletion in the PSMC3IP gene has been reported to be pathogenic in a large consanguineous Arab Palestinian pedigree with hypergonadotropic ovarian dysgenesis (Zangen et al. 2011. PubMed ID: 21963259). A homozygous nonsense variant in the PSMC3IP gene has also been reported to be pathogenic in patients with primary ovarian insufficiency (Al-Agha et al. 2018. PubMed ID: 29240891).

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect pathogenic variants in ~1% of patients with premature ovarian failure (Al-Agha et al. 2018. PubMed ID: 29240891).

Testing Strategy

This test provides full coverage of all coding exons of the PSMC3IP 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

This test is for patients with premature ovary failure/primary ovarian insufficiency or ovarian dysgenesis. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in PSMC3IP.

Gene

Official Gene Symbol OMIM ID
PSMC3IP 608665
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Ovarian Dysgenesis 3 AR 614324

Related Tests

Name
Female Infertility Panel
Premature Ovarian Failure (POF) Panel

Citations

  • Al-Agha et al. 2018. PubMed ID: 29240891
  • Kovanci and Schutt. 2015. PubMed ID: 25681846
  • Nelson. 2009. PubMed ID: 19196677
  • van Kasteren et al. 1999. PubMed ID: 10527968
  • Vegetti et al. 1998. PubMed ID: 9740426
  • Zangen et al. 2011. PubMed ID: 21963259

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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