Ehlers-Danlos Syndrome Type 6
Label Mnemonic: EDS6
Epic Lab Code: LAB3054
Downtime Form: A-1a Doctor/Provider Orders - Pathology Core and Specialty Care Nursery
Commercial Mail-out Laboratory
5231 RCP
356-8593
Specimen(s):
Random Urine
Collection Medium:
Urine (Random)-BD Vacutainer®, no additive yellow top
Minimum:
Preferred Minimum: 4 mL first-morning void in Random Urine Yellow Top (no additive) Absolute Minimum: 3 mL first-morning void in Random Urine Yellow Top (no additive) Random collection also accepted.
Delivery Instructions:
Keep on ice and deliver to laboratory immediately.
Turn Around Time:
2 weeks upon receipt at reference laboratory
Reference Range:
Age PYR DPYR Ratio DPYR/PYR 0-11 months Not applicable Not applicable 0.13-0.20 1-3 years Not applicable Not applicable 0.18-0.24 4-9 years Not applicable Not applicable 0.19-0.25 10-14 years Not applicable Not applicable 0.17-0.27 15-19 years Not applicable Not applicable 0.20-0.26 20 years and older Not applicable Not applicable 0.23-0.29
Test Limitations:
The HPLC analysis allows the simultaneous quantitation of pyridinoline and deoxypyridinoline. In patients with EDS VI, the excretion of deoxypyridinoline is markedly increased. As a result, the deoxypyridinoline/pyridinoline ratio is also markedly increased (from 0.2 in normal controls to 4-6 in patients with EDS VI) and allows the diagnosis.
Methodology:
High Performance Liquid Chromatography (HPLC)
CPT Code:
82523
 
See Additional Information:
Specimens Requiring Immediate Delivery