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Test Code
1594
Test Name
Occipital Horn Syndrome
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
OHS
Description

Occipital horn syndrome (OHS; MIM 304150) is an X-linked recessive disorder caused by mutations in the ATP7A gene. OHS, formerly known as Ehlers-Danlos syndrome IX, is characterized by occipital exostoses or %u2018bony horns%u2019 flanking both sides of the foramen magnum, skin laxity, easy bruisability, hyperextensible joints, bladder diverticula, ureteral obstruction, chronic diarrhea, head and face abnormalities, wormian bones and coarse hair. Some patients with OHS have developmental delay and mental retardation. ATP7A encodes a transmembrane copper-transporting P-type ATPase, a molecule involved in copper efflux from cells. This molecule transports copper to copper dependent enzymes synthesized within secretory compartments of cells. It is also involved in copper absorption from the gut. OHS is allelic to Menkes disease, a more serious disorder often resulting in death within the first three years of life. Menkes disease (MK; MIM 309400) is caused by loss of function mutations in the ATP7A gene, while patients with OHS display some residual ATP7A activity. Both Menkes disease and OHS are also allelic to spinal muscular atrophy, distal, X-linked 3 (SMAX3; MIM 300489), a peripheral motor neuron neuropathy.
Testing Schedule
Monday-Friday
Genes
ATP7A
MIM
304150
Disease Group
Connective Tissue
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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