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.
- 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: 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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2005560||EDS-VI (PLOD1) Seq, Del/Dup Specimen|
|2005561||EDS-VI (PLOD1) Seq, Del/Dup Interp|