Premature Ovarian Failure via the MCM8 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
9867 MCM8 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
9867MCM881479 81479(x2) $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.

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

Premature Ovarian Failure (POF), also known as premature ovarian insufficiency, 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). 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). 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).

Genetics

Approximately 10-30% of POF cases have familial inheritance (Vegetti et al. 1998; van Kasteren et al. 1999). The inheritance can be autosomal recessive, dominant or X-linked. MCM8 is a newly discovered gene involved in POF. Minichromosomal maintenance complex component 8 (MCM8) is a member of evolutionarily conserved MCMs protein family of eight proteins (MCM2-9). Studies of MCM8 have demonstrated it is responsible for homologous recombination mediated DNA repair during gametogenesis (Lutzmann et al 2012). Recently, autosomal recessive pathogenic variants, including missense and splicing variants as well as a small insertion, in MCM8 have been reported to cause POF and increased genomic instability (AIAsiri et al. 2015; Tenenbaum-Rakover et al. 2015; Dou et al. 2016).

Clinical Sensitivity - Sequencing with CNV PGxome

This test is predicted to detect pathogenic variants in 2-3% of patients with Premature Ovarian Failure (Dou et al. 2016).

Testing Strategy

This test provides full coverage of all coding exons of the MCM8 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 Primary Ovary Failure. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in MCM8.

Gene

Official Gene Symbol OMIM ID
MCM8 608187
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Premature Ovarian Failure 10 AR 612885

Related Test

Name
Premature Ovarian Failure (POF) Panel

Citations

  • AlAsiri S. et al. 2015. The Journal of Clinical Investigation. 125: 258-62. PubMed ID: 25437880
  • Dou X. et al. 2016. Fertility and Sterility. 106: 1485-1489.e2. PubMed ID: 27573988
  • Kovanci E. and Schutt A.K. 2015. Obstetrics and Gynecology Clinics of North America. 42:153-61 PubMed ID: 25681846
  • Lutzmann M. et al. 2012. Molecular Cell. 47: 523-34. PubMed ID: 22771120
  • Nelson L.M. 2009. The New England Journal of Medicine. 360: 606-14. PubMed ID: 19196677
  • Tenenbaum-Rakover Y. et al. 2015. Journal of Medical Genetics. 52: 391-9. PubMed ID: 25873734
  • van Kasteren Y.M. et al. 1999. Human Reproduction. 14: 2455-9. PubMed ID: 10527968
  • Vegetti W. et al. 1998. Human Reproduction. 13: 1796-800. PubMed ID: 9740426

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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