Heritable Disorders of Connective Tissue

Synonyms

  • HDCT
  • HERITABLE DISORDERS OF CONNECTIVE TISSUE
  • LAB14193

Cerner 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 Sources

Blood, Arterial Blood, Capillary Blood, Central Line Blood, Venous

Specimen Types

Blood

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

Results
Component Name Base Name Common Name External Name
HDCT HDCT HDCT Heritable Disorders of Connective Tissue

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
Molecular-Send Outs LAB14193 build edit