Marinesco-Sjogren syndrome Sequencing

Marinesco-Sjögren Syndrome is an autosomal recessive disorder. Symptoms such as cataracts, cerebellar ataxia, mental retardation, muscle weakness, short stature, and frequently hypergonadotropic hypogonadism are seen in patients with this condition. MSS can occur in males and females. If both parents are carriers there is a 25% chance their offspring will inherit the condition. MSS has been associated with mutations of the SIL1 gene, chromosome locus 5q31. Mutations have been found in about 50% of cases.

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

ICD-9 Code 759.89

Test Requisition: Sequencing Requisition

CPT Codes: 81479 Cost: $1193.00

Turn-around-time: 5-6 weeks