Lymphedema-Distichiasis Syndrome via the FOXC2 Gene
Summary and Pricing 
Test Method
Exome Sequencing with CNV Detection
| Test Code | Test Copy Genes | Test CPT Code | Gene CPT Codes Copy CPT Code | Base Price | |
|---|---|---|---|---|---|
| 8941 | FOXC2 | 81479 | 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.
Clinical Features and Genetics
Clinical Features
Lymphedema-distichiasis (LD) syndrome (OMIM 153400) presents with lymphedema of the lower extremities, a double row of eyelashes, and a variable age of onset (Mansour et al. GeneReviews, 2007). Patients may also have cleft palate, extradural cysts, cardiac defects, or photophobia. Other ocular findings may include: exotropia and ptosis as well as congenital ectropion and cataracts.
Genetics
LD is inherited in an autosomal dominant manner, although approximately one quarter of cases are the result of de novo variants. Researchers in the laboratory of Dr. Thomas Glover at the University of Michigan (Fang et al. Am J Hum Genet. 67:1382-1388, 2000) identified variants in the FOXC2 (Forkhead Box C2) gene as a cause of LD syndrome. The single exon, 1.5 kb FOXC2 gene is a member of the 'forkhead' (or winged helix) gene family, originally identified in Drosophila, which encode transcription factors with a conserved 100-amino acid DNA binding motif. About 50 different causative FOXC2 variants have been reported. Nearly all are frameshift or nonsense. Cases of lymphedema type II (OMIM 153200) and lymphedema with ptosis (OMIM 153000) have also been linked to variants in the FOXC2 gene (Finegold et al. Hum Molec Genet 10:1185-1189, 2001).
Clinical Sensitivity - Sequencing with CNV PGxome
In a patient with clearly clinically delineated lymphedema-distichiasis, we estimate that the sensitivity of this test to be 90%.
Testing Strategy
This test provides full coverage of all coding exons of the FOXC2 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 symptoms consistent with LD and the family members of patients with known variants.
Candidates for this test are patients with symptoms consistent with LD and the family members of patients with known variants.
Gene
| Official Gene Symbol | OMIM ID |
|---|---|
| FOXC2 | 602402 |
| Inheritance | Abbreviation |
|---|---|
| Autosomal Dominant | AD |
| Autosomal Recessive | AR |
| X-Linked | XL |
| Mitochondrial | MT |
Disease
| Name | Inheritance | OMIM ID |
|---|---|---|
| Distichiasis-Lymphedema Syndrome | AD | 153400 |
Citations
- Fang, J., et.al. (2000). "Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome." Am J Hum Genet 67(6): 1382-8. PubMed ID: 11078474
- Finegold, D. N., et.al. (2001). "Truncating mutations in FOXC2 cause multiple lymphedema syndromes." Hum Mol Genet 10(11): 1185-9. PubMed ID: 11371511
- Mansour S, Brice GW, Jeffery S, Mortimer P. 2007. Lymphedema-Distichiasis Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301630
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
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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ORDER OPTIONS
View Ordering Instructions1) Select Test Type
2) Select Additional Test Options
No Additional Test Options are available for this test.