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Test Code
5426
Test Name
Sotos Syndrome And Related Disorders NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
  • SOTOS1
  • SOTOS2
Description

Sotos syndrome is characterized by overgrowth, accelerated osseous maturation, typical facial features, macrocephaly, and developmental delay. Other clinical findings may include congenital heart anomalies, scoliosis, and seizures. Sotos syndrome has been shown to be caused by mutations in three different genes: APC2, NFIX and NSD1. Weaver syndrome is similar to Sotos syndrome. Additional clinical findings include campodactyly, umbilical hernia, a hoarse cry in infancy, and soft, doughy skin. Sotos syndrome 2 and Marshall-Smith syndrome are clinically related allelic disorders.

These syndromes show considerable overlap with the other overgrowth syndromes.

The Sotos syndrome and related disorders NGS panel consists of four genes: APC2, EZH2, NFIX and NSD1.

Gene

Disorder

MIM

Inheritance

APC2

Sotos syndrome 3 (SOTOS3)

617169

AR

EZH2

Weaver syndrome (WVS)

277590

AD

NFIX

Marshall-Smith syndrome (MRSHSS)

Sotos syndrome 2 (SOTOS2)

602535

614753

AD

AD

NSD1

Sotos syndrome 1 (SOTOS1)

117550

AD
Testing Schedule
Monday-Friday
Genes
APC2, EZH2, NFIX, NSD1
Disease Group
Craniosynostosis and Craniofacial Disorders, Dysmorphology, Neuromuscular, Skeletal Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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