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Lymphedema with Hypotrichosis and Telangiectasia via the SOX18 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
SOX18 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
10021SOX1881479 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


  • Siwu Peng, PhD

Clinical Features and Genetics

Clinical Features

Lymphedema with hypotrichosis and telangiectasia (OMIM 607823) is a rare disorder characterized by these three clinical features (Irrthum et al. Am J Hum Genet 72:1470-1478, 2003). Lymphedema, a chronic swelling of the extremities due to impairment in lymph drainage, was present in the legs of patients or was more generalized. Onset of lymphedema was birth to puberty. Hypotrichosis (sparse hair, including absence of eyebrows and eyelashes) was present at birth or developed in infancy. Telangiectasia (abnormal dilation of blood vessels leading to focal red lesions) was present on palms, soles, scalp, and legs.


Lymphedema with hypotrichosis and telangiectasia was reported to exhibit both autosomal recessive and autosomal dominant inheritance (Irrthum et al. 2003). Affected offspring of consanguineous matings had homozygous missense variants in the SOX18 gene (p.Asp104Pro and p.Trp95Arg). Affected children from the single reported dominant family had a de novo nonsense variant (p.Cys240*). SOX18 encodes a transcription factor. In mice, SOX18 variants affect development of fur and lymph vessels (Francois et al. Nature 456:643-647, 2008).

Clinical Sensitivity - Sequencing with CNV PGxome

Sensitivity of this test is unknown.

Testing Strategy

This test provides full coverage of all coding exons of the SOX18 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

Patients who have clinical features of lymphedema with hypotrichosis and telangiectasia are candidates for this test. Testing may also be considered for patients with other forms of lymphedema who lack variants in the FOXC2 and FLT4 genes. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in SOX18.


Official Gene Symbol OMIM ID
SOX18 601618
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Hypotrichosis-Lymphedema-Telangiectasia Syndrome AR 607823


  • Francois, M., et.al. (2008). PubMed ID: 18931657
  • Irrthum A, Devriendt K, Chitayat D, Matthijs G, Glade C, Steijlen PM, Fryns J-P, Steensel MA Van, Vikkula M. 2003. Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema-Telangiectasia. The American Journal of Human Genetics 72: 14701478. PubMed ID: 12740761


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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