Cantu syndrome (MIM 239850) is a rare, autosomal dominant disorder characterized by hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial features.  Patients have thick scalp hair, which may extend onto the forehead, and an overall increase in body more

Tests Available

By gene: ABCC9
Next Generation Sequencing
Test Code: 1784
Deletion / Duplication
Test Code: 1785
NGS/Del Dup Comprehensive
Test Code: 1786

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
Cardiovascular 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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