Premature Ovarian Failure/Ovarian Dysgenesis via the SOHLH1 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
8491 SOHLH1 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8491SOHLH181479 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. 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 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 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 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. To date, defects in at least 21 genes, including SOHLH1, have been documented to cause POF (Bouilly et al. 2016. PubMed ID: 27603904; Patiño et al. 2017. PubMed ID: 28505269).

SOHLH1 is a basic helix-loop-helix (bHLH) transcription factor that is expressed during oogenesis and plays a critical role in early folliculogenesis. It is also expressed during early testis development and is an important regulator of spermatogenesis (Kumar. PubMed ID: 28504648). Bi-allelic loss-of-function variants (nonsense, missense, splicing and small frameshift deletions) in SOHLH1 have been reported as causative for autosomal recessive POF (Bayram et al. 2015. PubMed ID: 25774885; Bouilly et al. 2016. PubMed ID: 27603904).

Clinical Sensitivity - Sequencing with CNV PGxome

Several pathogenic variants in SOHLH1 have been documented. In a cohort of 100 patients with premature ovarian failure, three pathogenic variants in SOHLH1 were identified (Bouilly et al. 2016. PubMed ID: 27603904).

No large deletions or duplications involving SOHLH1 have been reported (Human Gene Mutation Database).

Testing Strategy

This test provides full coverage of all coding exons of the SOHLH1 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 ovarian failure/Ovarian dysgenesis. Testing is also indicated for family members of patients who have known SOHLH1 pathogenic variants. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SOHLH1.

Gene

Official Gene Symbol OMIM ID
SOHLH1 610224
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Ovarian Dysgenesis 5 AR 617690

Related Test

Name
Premature Ovarian Failure (POF) Panel

Citations

  • Bayram et al. 2015. PubMed ID: 25774885
  • Bouilly et al. 2016. PubMed ID: 27603904
  • Human Gene Mutation Database (Bio-base).
  • Kovanci and Schutt. 2015. PubMed ID: 25681846
  • Kumar. 2017. PubMed ID: 28504648
  • 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.
  • 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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