Ehlers Danlos Panel EHLERDAN

Synonyms

Caffey disease
Arthrochalasia Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome
Osteogenesis Imperfecta (OI)
Classical Ehlers-Danlos syndrome
Vascular Ehlers-Danlos syndrome
EDS
COL1A1, COL3A1, COL5A1, COL5A2

Allscripts (AEHR) Order Name

Ehlers Danlos Panel

Sunrise Clinical Manager (SCM) Order Name

Ehlers Danlos Panel

EPIC Order Name

Ehlers Danlos Panel

Clinical Info

Molecular confirmation of a clinical diagnosis in symptomatic individuals
Risk assessment of asymptomatic family members of a proband diagnosed with Ehlers-Danlos syndrome or related disorder

Genes:COL1A1, COL3A1, COL5A1, COL5A2

GeneDx Test Code: T998

Specimen Type

Blood, Other

Specimen Volume

2-5 mL Blood - Lavender Top Tube

Container

Lavender Top Tube

Collection Instructions

Alternative Specimen

Buccal Swabs

Transport Instructions

Specimen Stability

Methodology

Next-Gen Sequencing
Deletion/Duplication Analysis

Days Performed

TAT: 4 weeks

Performing Laboratory

GeneDx Laboratories

CPT

81408,81479

PDM

255334

Result Interpretation

Forms