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Test Code
1886
Test Name
Roberts Syndrome Syndrome & SC Phocomelia
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
RBS
Description

Roberts syndrome (RBS; MIM 268300) and SC phocomelia syndrome (MIM 269000) are autosomal recessive disorders caused by mutations in the ESCO2 (establishment of cohesion 1 homolog 2) gene, which encodes a protein belonging to the Eco1/Ctf7 family of acetyltransferases involved in establishing sister chromatid cohesion during S phase. Karyotyping reveals heterochromatin repulsion characteristic for RBS and SC phocomelia syndrome.

RBS is characterized by severe prenatal growth retardation, tetraphocomelia, craniofacial abnormalities and intellectual disability. The upper limbs are usually more severely affected than the lower limbs. Oligodactyly with thumb aplasia or hypoplasia can be seen. Craniofacial features include microcephaly, cleft lip and palate and hypertelorism. Severely affected infants may be stillborn or die shortly after birth.

SC phocomelia syndrome is a milder phenotype with lesser degree of limb reduction and growth retardation. Additional findings include flexion contractures, midface hemangioma and hypoplastic cartilage of the ears and nose. Individuals with SC have microcephaly, but intellectual development may be normal. Some individuals may survive to adulthood.
Testing Schedule
Monday-Friday
Genes
ESCO2
MIM
268300
Disease Group
Craniosynostosis and Craniofacial Disorders, Ophthalmology, 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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