- Patient Preparation
- Contact ARUP's genetic counselor at (800) 242-2787 x2141 prior to test submission.
- Specimen Preparation
- Storage/Transport Temperature
- Unacceptable Conditions
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.
|Component Test Code*||Component Chart Name||LOINC|
|2005556||EDS, Type VI (PLOD1) Del/Dup Specimen|
|2005557||EDS, Type VI (PLOD1) Del/Dup Interp|