Number of Panel Genes: 
2

Generalized arterial calcification of infancy (GACI) is an autosomal recessive disorder that is frequently fatal in infancy.  This disorder is characterized by calcification of large and medium sized arteries and myointimal proliferation resulting in arterial stenosis. In some affected individuals the disease is detected prenatally.read more

Tests Available

2 Panel Genes: ENPP1, ABCC6
Next Generation Sequencing
$1,120
Test Code: 1438
Deletion / Duplication
$990
Test Code: 1478
NGS/Del Dup Comprehensive
$1,495
Test Code: 1479

Test Details

Technical Information
Panel Genes: 
ENPP1, ABCC6
Disease Groups: 
Cardiovascular Disorders
Skin, Tooth, Nail and Hair Disorders
MIM: 
208000
614473
Billing
Price: 
$1,120
CPT Codes: 
81479 x 2
Ordering
SKU:
1438
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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