| 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: Unknown.
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: Rare diagnostic errors can occur due to primer or probe site mutations. 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, 3, 5, and 19 may or 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 at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
Sequencing: 83891 Isolation; 83898 x19 Amplification; 83904 x19 Sequencing; 83909 Capillary electrophoresis; 83912 Interpretation and report. Del/Dup: 83896 x18 Nucleic acid probes; 83898 x18 Amplification; 83914 x18 Extension; 83909 Capillary electrophoresis - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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Cross References: |
EDS6 (Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication)
, PLOD1 (Ehlers-Danlos Syndrome Kyphoscoliotic Form, Type VI (PLOD1) Sequencing and Deletion/Duplication)
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