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 ‘bony horns’ 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.read more

Tests Available

By gene: ATP7A
Next Generation Sequencing
Test Code: 1211
Deletion / Duplication
Test Code: 1212
NGS/Del Dup Comprehensive
Test Code: 1594

Test Details

Technical Information
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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