The kyphoscoliotic type of Ehlers-Danlos Syndrome, EDS type VI, is characterized by severe muscular hypotonia, kyphoscoliosis at birth, joint laxity, scleral fragility, and rupture of the ocular globe. EDS type IV is an autosomal recessive disorder caused by mutations in PLOD1.
For the sequence analysis of the PLOD1 gene, genomic DNA is amplified and the coding and flanking regions of the gene are sequenced by automated sequencing (ABI 3130).
Sensitivity: Unknown
Specimen Requirements: 5 cc of blood drawn in EDTA (lavender top tube) or DNA
| EDS VI DNA Testing |
| CPT CODE | DESCRIPTION |
|---|
| 83898 | PCR amplification PLOD1 (x15) |
| 83904 | Mutation identification by sequencing PLOD1 (x20) |
| 83912 | Interpretation and report, complex |
| TOTAL | $857.00 |
| DNA Extraction from Blood Sample |
| CPT CODE | DESCRIPTION |
|---|
| 83891 | Extraction of highly purified DNA |
| TOTAL | $50.00 |
