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46,XX Differences of Sex Development (DSD) via the WNT4 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
WNT4 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10007WNT481479 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

Disorders of Sex Development (DSD) is a congenital condition in which the development of chromosomal, gonadal, or anatomical sex is atypical (Hughes et al. Arch Dis Child 91(7): 554-563, 2006). Three subtypes of DSD are generally recognized: Sex Chromosome DSD, 46,XX DSD and 46,XY DSD. 46,XX DSD is defined by a normal 46,XX karyotype in conjunction with virilization. Mullerian aplasia and hyperandrogenism are characterized by regression or absence of the mullerian duct derivates (uterus, fallopian tubes and upper part of the vagina), primary amenorrhea and elevated androgen levels. Often the first noticeable sign of mullerian aplasia and hyperandrogenism is the absence of menstruation in adolescent girls. Mullerian aplasia and hyperandrogenism features overlap with Rokitansky-Kuster-Hauser syndrome. SERKAL syndrome is characterized by female sex reversal, and kidney, adrenal and lung dysgenesis (Mandel et al. Am J Hum Genet 82(1):39-47, 2008). SERKAL syndrome has only been reported in one consanguineous family from the Middle East. All affected fetuses had renal agenesis.


WNT4 encodes for a signaling peptide that promotes female fate and prevents testis formation. Mullerian aplasia and hyperandrogenism is inherited in an autosomal dominant manner while SERKAL syndrome is inherited in an autosomal recessive manner due to mutations in WNT4 (Biason-Lauber et al. New Eng J Med 351(8):792-798, 2004; Mandel et al., 2008). All pathogenic variants reported to date are missense mutations.

Clinical Sensitivity - Sequencing with CNV PGxome

Analytical sensitivity may be high because all WNT4 mutations reported to date are expected to be detected by direct sequencing of genomic DNA. Clinical sensitivity is problematic to predict due to the lack of documented cases.

No gross deletion or duplication mutations in WNT4 have been reported in patients with SERKAL syndrome or mullerian duct abnormalities.

Testing Strategy

This test provides full coverage of all coding exons of the WNT4 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

Females with mullerian aplasia, primary amenorrhea and hyperandrogenism and 46,XX individuals with SERKAL syndrome. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in WNT4.


Official Gene Symbol OMIM ID
WNT4 603490
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Mullerian Aplasia And Hyperandrogenism AD 158330
Serkal Syndrome AR 611812


  • Biason-Lauberet al. (2004). PubMed ID: 15317892
  • Hughes, I. A. et.al. (2006). PubMed ID: 16624884
  • Mandel et al. (2008). PubMed ID: 18179883


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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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

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