Heritable Disorders of Connective Tissue HDCT

Synonyms
Allscripts (AEHR) Order Name	Heritable Disorders of Connective Tissue
Sunrise Clinical Manager (SCM) Order Name	Heritable Disorders of Connective Tissue
EPIC Order Name	Heritable Disorders of Connective Tissue
Clinical Info	Used for Molecular confirmation of a clinical diagnosis in symptomatic individualsRisk assessment of asymptomatic family members of a proband diagnosed with a heritable connective tissue disorderGenetic counseling and recurrence risk determination
Specimen Type	Blood, Other
Specimen Volume	2-5 mL or Buccal Swab
Container	Lavender Top Tube or Buccal (Oral Cheek Swab)
Collection Instructions	Container/Tube: Lavender top Tube or Buccal Swab Specimen: 2 - 5 mL Whole Blood or Buccal Swab
Transport Instructions	Room Temperature
Specimen Stability
Methodology	Deletion/Duplication AnalysisNext-Gen Sequencing GeneDx Test code J555
Days Performed	TAT: 4 Weeks
Performing Laboratories	GeneDx
CPT	81410 81411
PDM	245341 , 245341
Result Interpretation See report Panel Gene List ACTA2, ADAMTS2, AEBP1, ALDH18A1, ATP6V0A2, ATP6V1E1, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, CBS, CHST14, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2, COL12A1, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, LOX, LTBP4, MAT2A, MED12, MFAP5, MYH11, MYLK, NOTCH1, PLOD1, PRDM5, PRKG1, PYCR1, RIN2, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, TAB2, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, ZNF469
Forms

Synonyms