Lymphedema-Distichiasis Syndrome via the FOXC2 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
8941 FOXC2 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8941FOXC281479 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

  • Siwu Peng, PhD

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.

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


Specimen Types

Specimen Requirements and Shipping Details

PGxome (Exome) Sequencing Panel

PGnome (Genome) Sequencing Panel

loading Loading... ×

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: $
×
Copy Text to Clipboard
×