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Urofacial Syndrome 2 via the LRIG2 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
LRIG2 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8083LRIG281479 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.

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


  • Angela Gruber, PhD

Clinical Features and Genetics

Clinical Features

Urofacial syndrome (UFS; Ochoa syndrome) is characterized by congenital urinary bladder dysfunction and abnormal facial expression while smiling, laughing and crying (Daly et al. 2010; Pang et al. 2010; Stuart et al. 2013). Typically appearing in early childhood or adolescence, urinary tract symptoms include lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux and renal failure. Facial features may appear earlier than the urinary tract symptoms, but are usually unnoticed medically. Urofacial syndrome 1 and 2 are caused by recessive pathogenic variants in the HPSE2 and LRIG2 genes, respectively.


Urofacial syndrome 2 is an autosomal recessive disorder caused by defects in the LRIG2 gene (Stuart et al. 2013). The LRIG2 gene has 18 coding exons that encode leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Genetic defects of LRIG2 found to date include missense, nonsense and small deletions (Human Gene Mutation Database). A 371bp insertion has been also reported (Stuart et al. 2013).

Clinical Sensitivity - Sequencing with CNV PGxome

Urofacial syndrome is known to be caused pathogenic variants in HPSE2 and LRIG2. Detection rate of pathogenic variants in the LRIG2 gene in a large cohort of patients with urofacial syndrome is unknown in the literature because only a limited number of cases have been reported. Based on the limited cases reported, pathogenic variants appear to be more common in HPSE2 as compared to LRIG2.

Testing Strategy

This test provides full coverage of all coding exons of the LRIG2 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

Candidates for this test are patients with Urofacial syndrome. Testing is also indicated for family members of patients who have known pathogenic variants in the LRIG2 gene. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LRIG2.


Official Gene Symbol OMIM ID
LRIG2 608869
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Urofacial syndrome 2 AR 615112

Related Test

Urofacial Syndrome 1 via the HPSE2 Gene


  • Daly SB., Urquhart JE. 2010. American journal of human genetics. 86: 963-9. PubMed ID: 20560210
  • Human Gene Mutation Database (Bio-base).
  • Pang J., Zhang S. 2010. American journal of human genetics. 86: 957-62. PubMed ID: 20560209
  • Stuart HM. et al. 2013. American journal of human genetics. 92: 259-64.  PubMed ID: 23313374


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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