CANAVAN DISEASE SCREEN
DNA ANALYSIS

This DNA test evaluates for the presence of the most common mutations associated with Canavan Disease (CD) in the Ashkenazi Jewish population. The carrier frequency and disease incidence in the Ashkenazi Jewish population have been estimated at approximately 1/36 and 1/5200 . The Medical Genetics Laboratories at Baylor College of Medicine performs a DNA-based assay to screen for the mutations listed below. This DNA-based screen is most appropriate for individuals of Ashkenazic Jewish ancestry. This screen is not appropriate for individuals who are from other ethnic backgrounds, who should consider other genetic testing approaches for these diseases.

Reasons for Referral:

Confirmation of diagnosis
Carrier Identification
Sperm and Egg Donors

Testing Methodology:

Direct DNA analysis is performed for the 3 mutations listed below using an automated high-throughput system that incorporates DNA amplification (PCR), primer extension, and allele resolution by Matrix Assisted Laser Desorption Ionization-Time of Flight (MALDI-TOF) Mass Spectrometry. The mutations tested are:

Canavan Disease

Y231X
E285A
A305E

Sensitivity:

~98% Detection for Canavan Disease DNA analysis only for the Ashkenazic Jewish population

Specimen Requirements:

Blood for DNA: EDTA (purple-top) tubes: Adults: 14 cc; Child: 6 cc; Infant: 2-3 cc.
Prior to any genetic testing, we recommend genetic counseling and request that the subject, or their legal guardian, sign our consent form and submit it with the sample.

Turnaround Time:

3 weeks

CPT Codes and Prices:

83788, 83914x3, 83912, 83900, 83901, 83891

Shipping Information

Forms:

>> DNA Requisition

Test Code:

6070