Heritable Disorders of Connective Tissue Build info

Synonyms

• HERITABLE DISORDERS OF CONNECTIVE TISSUE
• HDCT
• LAB14193

Short Name

HERITABLE DISORDERS OF CONNECTIVE TISSUE

Procedure Master Number

LAB14193

Procedure ID

183747

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

Container

Lavender Top Tube or Buccal 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 Laboratory

GeneDx

CPT

81410
81411

PDM

245341

Results