Canavan Disease Mutation Analysis

90905

This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.

If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture work (CPT code(s): 88235) if not already ordered

4 mL whole blood collected in an EDTA (lavender-top) tube

3 mL whole blood and bone marrow • 10 mL amniotic fluid • 10 mg dissected chorionic villus biopsy

Whole blood collected in: EDTA (royal blue-top) tube, ACD (yellow-top) tube, sodium heparin (green-top) tube, or lithium heparin (green-top) tube • Bone marrow collected in: EDTA (lavender-top) tube

Fetal specimens: 10 mL amniotic fluid collected in a sterile plastic leak-proof container • Amniocyte or chorionic villus (CVS) culture cells collected in each of two sterile T-25 flasks • 10 mg dissected chorionic villus (CVS) biopsy collected in a sterile tube filled with sterile culture media

Do not hold specimen; forward to laboratory when specimen arrives.

Whole blood: Specimen stability is crucial. Store and ship at room temperature immediately. Do not freeze.

For fetal testing:
1) Please call 1-866-GENE-INFO (1-866-436-3463) prior to submission
2) Documentation of parental carrier status must be provided
3) It is required that Maternal Cell Contamination Study, STR Analysis be ordered in conjunction with fetal testing. A separate tube of maternal blood (EDTA) is required for this test.

Amniotic fluid: Normal collection procedure. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Amniocyte or chorionic villus (CVS) culture: Two sterile T25 flasks, 75% confluent, filled with culture medium. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when cells arrive.

Dissected chorionic villus (CVS) biopsy: 10-20 mg dissected chorionic villi collected in a sterile tube, filled with sterile culture media. Specimen stability is crucial. Store and ship at room temperature immediately. Do not refrigerate or freeze; forward to laboratory when sample arrives.

Note: Do not reject. Forward to performing laboratory for evaluation of sample.

EDTA (lavender-top) tube

Room temperature

Whole blood and bone marrow
Room temperature: 8 days
Refrigerated: 8 days
Frozen: Unacceptable

⁠⁠⁠⁠⁠⁠⁠Fetal specimens
Room temperature: 48 hours
Refrigerated: Unacceptable
Frozen: Unacceptable

Mon, sat

10-16 days

The test detects four mutations that are responsible for approximately 99% of mutations common among Ashkenazi Jews and 60% among those with Canavan Disease in other populations.

See Laboratory Report

Canavan Disease is an autosomal recessive disease that results in demyelination and spongy degeneration of the brain. Canavan Disease carrier rate is approximately 1 in 40 among those of Ashkenazi Jewish heritage. This test detects approximately 99% of mutations common among Ashkenazi Jews and 60% in other populations.