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Vascular Malformations Panel, Sequencing and Deletion/Duplication, 14 Genes

CPT Code(s): 81321 (PTEN); 81323 (PTEN); 81405 x3 (BMPR2, ENG, SMAD4); 81406 x3 (BMPR2, 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:
  • 0051348 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Deletion/Duplication0051382 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing and Deletion Duplication0051510 Juvenile Polyposis (SMAD4) Sequencing0051575 Hereditary Hemorrhagic Telangiectasia (ACVRL1 and ENG) Sequencing0051789 Juvenile Polyposis (SMAD4) Sequencing and Deletion/Duplication2001976 Juvenile Polyposis (SMAD4) Deletion/Duplication2002470 PTEN-Related Disorders (PTEN) Sequencing and Deletion/Duplication2002722 PTEN-Related Disorders (PTEN) Sequencing2002726 PTEN-Related Disorders (PTEN) Deletion/Duplication2002730 RASA1-Related Disorders (RASA1) Sequencing2003152 Cerebral Cavernous Malformation (CCM1) Sequencing2003156 Cerebral Cavernous Malformation (CCM2) Sequencing2003160 Cerebral Cavernous Malformation (CCM3) Sequencing2003164 Cerebral Cavernous Malformation (CCM1) Sequencing with Reflex to (CCM1, CCM2 and CCM3) Delet2003172 Cerebral Cavernous Malformation (CCM1, CCM2, and CCM3) Deletion/Duplication2003405 Pulmonary Arterial Hypertension (BMPR2) Sequencing and Deletion/Duplication2007852 RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication2009326 Cerebral Cavernous Malformation (CCM) Panel, Sequencing and Deletion/Duplication, 3 Genes2010015 Telangiectasia Syndrome (BMP9/GDF2) SequencingACVRL1/ALK1, BMP9/GDF2, BMPR2, CAV1, CCM1/KRIT1, CCM2, CCM3/PDCD10, ENG, GLMN, KCNK3, PTEN, RASA1SMAD4, TEK/TIE2Vascular Malformation Next Generation AssayVascular Malformations Next Gen Assay
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