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Legius Syndrome via the SPRED1 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
SPRED1 81405 81405,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8665SPRED181405 81405,81479 $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


  • Brett Deml, PhD

Clinical Features and Genetics

Clinical Features

Legius Syndrome, previously known as neurofibromatosis type 1-like syndrome (NFLS, OMIM 611431), has been recently described at both the clinical and molecular genetics level (Brems et al. Nat Genet 39:1120-1126, 2007). The most common clinical features of Legius syndrome are multiple café-au-lait spots. Additional features may include a Noonan-like dysmorphy (NS, OMIM 163950), axillary freckling, macrocephaly, psychomotor developmental delay, behavioral problems and learning difficulties. Although Legius syndrome resembles the Neurofibromatosis Type 1 phenotype (NF1, OMIM 162200), some typical features of NF1, such as Lisch nodules in the iris, neurofibromas, central nervous system tumors and long bone dysplasias are absent (Brems et al. Nat Genet 39:1120-1126, 2007).


Autosomal dominant inheritance was documented in most reported cases , while family medical history was not available for several patients. It is therefore not clear whether these cases are familial or sporadic. Mutations in the SPRED1 gene cause Legius syndrome. Over 50 heterozygous SPRED1 causative mutations have been reported to date. The mutations are distributed throughout the gene and are mostly truncating. Only seven missense mutations were documented. The SPRED1 protein negatively regulates MAP kinase signaling within the RAS-MAPK pathway, similar to neurofibromin, the defective protein in patients with NF1.

Clinical Sensitivity - Sequencing with CNV PGxome

SPRED1 mutations account for ~ 8 % of patients with Legius Syndrome (Brems et al. Nat Genet 39:1120-1126, 2007).

Testing Strategy

This test provides full coverage of all coding exons of the SPRED1 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 with café au lait spots and freckling without Lisch nodules, neurofibromas, central nervous system tumors or long bone dysplagias are candidates for the SPRED1 gene test.


Official Gene Symbol OMIM ID
SPRED1 609291
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Legius Syndrome AD 611431

Related Test

Neurofibromatosis (NF) Type 1 and Legius Syndrome Panel


  • Brems, H., et.al. (2007). "Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype." Nat Genet 39(9): 1120-6. PubMed ID: 17704776


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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