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
$990
Test Code: 1211
Deletion / Duplication
$680
Test Code: 1212
NGS/Del Dup Comprehensive
$1,570
Test Code: 1594

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Test Details

Technical Information
Genes: 
ATP7A
Disease Groups: 
Ehlers-Danlos Syndrome and Related Disorders
MIM: 
304150
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1211
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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