Number of Panel Genes: 
2

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 hair.read more

Tests Available

2 Panel Genes: ABCC9, KCNJ8
Next Generation Sequencing
$1,100
Test Code: 5160
Deletion / Duplication
$990
Test Code: 5161
NGS/Del Dup Comprehensive
$1,475
Test Code: 5162

Test Details

Technical Information
Panel Genes: 
ABCC9, KCNJ8
Disease Groups: 
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
Cardiovascular Disorders
Billing
Price: 
$1,100
CPT Codes: 
81479 x 2
Ordering
SKU:
5160
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: 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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