Cockayne syndrome (also called Weber-Cockayne syndrome, or Neill-Dingwall Syndrome) is a rare autosomal recessive congenital disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight, and premature aging. Hearing loss and eye abnormalities are other common features, but problems with any or all of the internal organs are possible. It is associated with a group of disorders called leukodystrophies. Mutations in the ERCC6 and ERCC8 genes are the cause of Cockayne syndrome. The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism, particularly the DNA in active genes. If either the ERCC6 or the ERCC8 gene is altered, DNA damage is not repaired. As this damage accumulates, it can lead to malfunctioning cells or cell death. Our laboratory performs testing for the ERCC8 mutation.
Methodology: Sequencing of entire coding region
Purpose: Confirmation of Clinical Diagnosis
ICD-10 Code Q87.1
Test Requisition: Sequencing Requisition
CPT Code: 81479 Cost: $690.00
Turn-around-time: 5-6 weeks
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