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Test Code
5267
Test Name
Weaver And Cohen-Gibson Syndrome 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
WVS
Description

Simpson-Golabi-Behmel (SBGS), Sotos, Weaver (WVS) and Cohen-Gibson syndromes are overgrowth syndromes. They are characterized by pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. All of these syndromes show considerable phenotypic overlap; however, these disorders also have some distinct clinical features. Congenital heart anomalies, scoliosis, renal abnormalities and seizures are common in Sotos syndrome, while WVS is associated with campodactyly, umbilical hernia, hoarse cry in infancy, and soft, doughy skin. Cohen-Gibson syndrome is clinically related to WVS. SBGS1 can be distinguished from other overgrowth disorders by its unique set of features, including coarse facies, macrostomia, macroglossia, cleft palate, postaxial polydactyly, rib abnormalities, and congenital heart defects. SBGS2 clinically overlaps with SGBS1. SGBS2 is more severe and often lethal in infancy.

The Weaver and Cohen-Gibson syndrome NGS panel consists of two genes: EED and EZH2.

Gene

Disorder

MIM

Inheritance

EED

Cohen-Gibson syndrome (COGIS)

617561

AD

EZH2

Weaver syndrome (WVS)

277590

AD
Testing Schedule
Monday-Friday
Genes
EED, EZH2
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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