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Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Sequencing and Deletion/Duplication, 5 Genes

CPT Code(s): 81405 x2 (ENG, SMAD4); 81406 x2 (ENG, SMAD4); 81479 x2
Specimen Required: Patient Preparation:
Collect:Lavender (EDTA) or yellow (ACD Solution A or B).
Specimen Preparation:Transport 3 mL whole blood. (Min: 1 mL)
Storage/Transport Temperature:Refrigerated.
Stability:Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
New York DOH Approval Status: Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Aliases:
  • 0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion/Duplication2001971 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication2010015 Telangiectasia Syndrome (BMP9/GDF2) SequencingACVRL1/ALK1, BMP9/GDF2, ENG, RASA1, SMAD4Osler-Weber-Rendu syndrome
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