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 more

Tests Available

By gene: ABCC6
Next Generation Sequencing
Test Code: 1436
Deletion / Duplication
Test Code: 1437
NGS/Del Dup Comprehensive
Test Code: 1477

Test Details

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