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Sotos Syndrome via the NSD1 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
NSD1 81406 81406,81405 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11529NSD181406 81406,81405 $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


  • Eric Bend, PhD

Clinical Features and Genetics

Clinical Features

Sotos syndrome (OMIM 117550) is characterized clinically by cardinal features of craniofacial dysmorphism, childhood overgrowth, and learning disability. Variable features include behavioral problems; advanced bone age among childhood-aged patients; congenital heart defects; cranial defects; joint hyperlaxity; structural renal abnormalities; scoliosis; seizures; and jaundice, poor feeding, and hypotonia in newborns (Cole, Tatton-Brown and Rahman. GeneReviews, 2009). Children with Sotos syndrome uniformly have macrocephaly, approximately half of which is acquired in the first year of life. Other craniofacial features include dolicocephaly, sparse hair in the frontopareital region, prominent jaw, down-slanting palpebral fissures, and malar flushing. Mental deficiency is variable ranging from mild to severe. Early signs of delay are apparent and often motor delay is first noticeable because of poor coordination and hypotonia. Overgrowth is prenatal in onset, and length is affected more than weight. Through childhood and adolescence growth remains at or above 97th percentile, but final height is often within normal range. An estimated risk of 3.9% for developing benign or malignant tumors has been proposed for Sotos syndrome (Gorlin et al. Syndromes of the Head and Neck. 3rd Ed. NY, Oxford Univ Press, 1990).


Sotos syndrome is a fully penetrant autosomal dominant disorder. Approximately 95% of Sotos syndrome patients have de novo NSD1 variants, and 5% have an affected parent. Haploinsufficiency for NSD1, the most common etiology, results from intragenic point variants (~80%), 5q35 microdeletions (~10%) or partial NSD1 gene deletions (~5%), (Douglas et al. Am J Hum Genet 72:132-143, 2003; Tatton-Brown et al. Am J Hum Genet 77:193-204, 2005). Missense variants are limited to functional domains of the protein while nonsense variants occur throughout the protein. Compared to patients with NSD1 intragenic point variants, patients with microdeletions have been found to have more severe learning disability and less prominent overgrowth (Tatton-Brown et al. 2005). Some patients with Weaver syndrome (OMIM 277590) have been found to also have variants in the NSD1 gene (Douglas et al. 2003).

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity of NSD1 sequencing should be high in children with the facial gestalt in conjunction with overgrowth, macrocephaly, and developmental delay (Turkmen at al. Europ J Hum Genet 11:858-865, 2003). Among 266 NSD1 positive patients, Tatton-Brown et al. (2005) found point variants in 83%. Similarly, Douglas et al. (2003) found NSD1 point variants in 76% of a group of subjects characterized as typical Sotos syndrome patients. The same authors found three of seven Weaver syndrome patients to have NSD1 variants, all between amino acids 2142 and 2184.

Testing Strategy

This test provides full coverage of all coding exons of the NSD1 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

A child with characteristic facial features, developmental delay, and overgrowth.


Official Gene Symbol OMIM ID
NSD1 606681
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Sotos' Syndrome AD 117550


  • Douglas, J., et.al. (2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes." Am J Hum Genet 72(1): 132-43. PubMed ID: 12464997
  • Robert J. Gorlin, et.al. (1990). "Syndromes of the Head and Neck."." 3: ."
  • Tatton-Brown, K., et.al. (2005). "Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations." Am J Hum Genet 77(2): 193-204. PubMed ID: 15942875
  • Trevor RP Cole, et.al. (2009). "Sotos Syndrome."
  • Turkmen, S., et.al. (2003). "Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes." Eur J Hum Genet 11(11): 858-65. PubMed ID: 14571271


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

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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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