Premature Ovarian Failure (POF) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
5285 AIRE 81406,81479 Order Options and Pricing
BMP15 81479,81479
CLPP 81479,81479
CYP17A1 81405,81479
CYP19A1 81479,81479
EIF2B2 81405,81479
EIF2B4 81406,81479
EIF2B5 81406,81479
FIGLA 81479,81479
FOXL2 81479,81479
FSHR 81479,81479
GALT 81406,81479
HFM1 81479,81479
LMNA 81406,81479
MCM8 81479,81479
MCM9 81479,81479
NOBOX 81479,81479
NR5A1 81479,81479
PSMC3IP 81479,81479
SOHLH1 81479,81479
STAG3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
5285Genes x (21)81479 81405, 81406, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View 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

Clinical Features and Genetics

Clinical Features

Premature Ovarian Failure (POF), also known as primary 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. PubMed ID: 19196677). POF, in the most severe form, is a result of ovarian dysgenesis in which pubertal development is also severely affected. POF is a major cause of infertility and affects 1% of women before the age of 40. 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 disorders, 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. To date, defects in at least 21 genes have been documented to cause POF (Layman. 2013. PubMed ID: 23499866; Bouilly et al. 2016. PubMed ID: 27603904). Pathogenic variants in genes involved in meiosis (HFM1, STAG3), in DNA repair (MCM8, MCM9), in genes encoding transcription factors (NR5A1, NOBOX, FIGLA, FOXL2 and SOHLH1), and in genes encoding TGF-ß signaling pathway (BPM15) have all been reported in POF (Bouilly et al. 2016. PubMed ID: 27603904; Patiño et al. 2017. PubMed ID: 28505269). Moreover, this panel contains a set of other genes associated with syndromes that may also present with POF, such as aromatase deficiency, blepharophimosis, ptosis and epicanthus inversus syndrome (BPES), Malouf syndrome, ovarian hyperstimulation syndrome, and Perrault syndrome. See individual gene test descriptions for information on molecular biology of gene products and mutation spectra.

Clinical Sensitivity - Sequencing with CNV PGxome

This multi-gene panel analyzes genes associated with premature ovarian failure (POF). The detection rate of this NGS panel in a large cohort of female patients is unavailable in the literature, but pathogenic variants in 6 of the genes within this panel have been discovered in 13/100 (13%) of patients with POF (Bouilly et al. 2016. PubMed ID: 27603904).

Gross deletions or duplications have been reported in AIRE, CLPP, CYP17A1, CYP19A1, EIF2B2, FOXL2, GALT, LMNA and NR5A1 (Human Gene Mutation Database). Overall clinical sensitivity is difficult to predict due to the paucity of documented cases, but is expected to be low.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 99.3% coverage of all coding exons of the genes 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 coverage as >20X NGS reads or Sanger sequencing.

Genes without complete coverage: MCM8, NR5A1, and STAG3. A full list of regions not covered by NGS or Sanger sequencing is available upon request.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

This test is for patients with premature ovarian failure and/or infertility.

Genes

Official Gene Symbol OMIM ID
AIRE 607358
BMP15 300247
CLPP 601119
CYP17A1 609300
CYP19A1 107910
EIF2B2 606454
EIF2B4 606687
EIF2B5 603945
FIGLA 608697
FOXL2 605597
FSHR 136435
GALT 606999
HFM1 615684
LMNA 150330
MCM8 608187
MCM9 610098
NOBOX 610934
NR5A1 184757
PSMC3IP 608665
SOHLH1 610224
STAG3 608489
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Related Test

Name
PGxome®

Citations

  • Bouilly et al. 2016. PubMed ID: 27603904
  • Human Gene Mutation Database (Bio-base).
  • Kovanci and Schutt. 2015. PubMed ID: 25681846
  • Layman. 2013. PubMed ID: 23499866
  • Nelson. 2009. PubMed ID: 19196677
  • Patiño et al. 2017. PubMed ID: 28505269
  • van Kasteren et al. 1999. PubMed ID: 10527968
  • Vegetti et al. 1998. 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.

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

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ORDER OPTIONS

View Ordering Instructions

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.

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