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: KCNJ8
Sanger Sequencing
Test Code: 2226
Deletion / Duplication
Test Code: 2227
NGS/Del Dup Comprehensive
Test Code: 2228

Test Details

Technical Information
Disease Groups: 
Cardiovascular Disorders
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 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)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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