Feedback
Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication
2005555
Ordering Recommendation
Mnemonic
EDS-VI DD
Methodology
Polymerase Chain Reaction/Multiplex Ligation-dependent Probe Amplification
Performed
Varies
Reported
Within 14 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
ARUP Consult®
Disease Topics
Specimen Required
Patient Preparation
 
Collect
Contact ARUP's genetic counselor at (800) 242-2787 x2141 prior to test submission. 
Specimen Preparation
 
Storage/Transport Temperature
 
Unacceptable Conditions
 
Remarks
 
Stability
 
Reference Interval
Interpretive Data
Background Information for Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Deletion/Duplication:
Characteristics of Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI:
Kyphoscoliosis at birth or within the first year of life, severe neonatal hypotonia, thin hyperextensible and bruisable skin, atrophic scarring, joint hypermobility, and scleral fragility leading to increased risk for rupture of the globe. Increased risk for rupture of medium size arteries, and individuals with severe kyphoscoliosis are at increased risk for respiratory compromise.
Incidence:
Approximately 1 in 100,000 live births.
Inheritance:
Autosomal recessive.
Cause:
Lysyl hydroxylase deficiency due to pathogenic PLOD1 (procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase) gene mutations.
Clinical Sensitivity:
Approximately 20 percent.
Methodology:
Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large PLOD1 coding region deletions/duplications, including the common 8.3 kb duplication of exons 10-16.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations will not be detected. Deletions/duplications of exon 9 will not be detected; deletions/duplications of exons 1 and 5 may not be detected based on the breakpoints of the rearrangement. The breakpoints of large deletions/duplications will not be determined.

Compliance Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test. However, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing. Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
CPT Code(s)
81479
Components
Component Test Code*Component Chart NameLOINC
2005556EDS, Type VI (PLOD1) Del/Dup Specimen
2005557EDS, Type VI (PLOD1) Del/Dup Interp
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
  • EDS6
  • PLOD1