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Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication
2005559
Ordering Recommendation

Preferred molecular (DNA) test to confirm a diagnosis of Ehlers-Danlos type VI following clinical and/or biochemical presentation. For initial testing for EDS VI, refer to Ehlers-Danlos Syndrome Type VI Screen (0080351). This testing is NOT recommended to rule out other types of EDS.

Mnemonic
EDS-VI FGA
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
14-21 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) Sequencing and 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:
Not published; however, this test combination is expected to detect the majority of mutations.
Methodology:
Bidirectional sequencing of the entire coding region and intron/exon boundaries of the PLOD1 gene. Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large PLOD1 coding region deletions/duplications, including the common 8.3kb duplication of exons 10-16.
Analytical Sensitivity and Specificity:
99 percent.
Limitations
: Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations and deep intronic mutations will not be detected. Large deletions/duplications of exon 9 will not be detected; large 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.

Components
Component Test Code*Component Chart NameLOINC
2005560EDS-VI (PLOD1) Seq, Del/Dup Specimen
2005561EDS-VI (PLOD1) Seq, 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