Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT; MIM 175050) is an autosomal dominant disorder with the combined phenotypic features of juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.  JPHT is caused by loss of function mutations in the SMAD4 gene.read more

Tests Available

By gene: SMAD4
Sanger Sequencing
Test Code: 1410
Deletion / Duplication
Test Code: 1411
NGS/Del Dup Comprehensive
Test Code: 1566

Test Details

Technical Information
Disease Groups: 
Vascular Malformations
Skin, Tooth, Nail and Hair Disorders
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
CPT Codes: 
81406 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: 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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