Canavan Disease, DNA Analysis

CPT: 81200
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Test Details

Synonyms

  • Aminoacylase-2 Deficiency
  • ASP(A) Deficiency
  • Aspartoacylase Deficiency

Use

Identification of carrier and affected individuals for four mutations, E285A, Y231X, 433-2A>G, and A305E, associated with Canavan disease. Prenatal testing is available.

Limitations

This test detects ∼98% of mutations responsible for Canavan disease in Ashkenazi Jews, and ∼60% of mutations in non-Jewish Caucasians.

Methodology

Polymerase chain reaction (PCR); primer extension; flow-sorted bead array analysis of four aspartoacylase gene mutations

Additional Information

Canavan disease (OMIM 271900) is an autosomal recessive progressive leukodystrophy that often leads to death in the first decade of life. It is caused by a deficiency of the enzyme, aspartoacylase (ASPA). Canavan disease is more common in the Ashkenazi Jewish population where about 1 in 40 persons is estimated to be a carrier. Couples who are both carriers have a one in four risk of having a child with Canavan disease. A305E is the Canavan mutation found among individuals of non-Ashkenazi Jewish ancestry. DNA test results must be combined with clinical information for the most accurate interpretation.

Specimen Requirements

Specimen

Whole blood, amniotic fluid, chorionic villus sample (CVS) (submission of maternal blood is required for fetal testing), or LabCorp buccal swab kit (buccal swab collection kit contains instructions for use of a buccal swab)

Volume

7 mL whole blood, 10 mL amniotic fluid, 20 mg CVS, or LabCorp buccal swab kit

Minimum Volume

3 mL whole blood, 5 mL amniotic fluid, 10 mg CVS, or two buccal swabs

Container

Lavender-top (EDTA) tube, yellow-top (ACD) tube, sterile plastic conical tube or two confluent T25 flasks for fetal testing, or LabCorp buccal swab kit

Storage Instructions

Maintain specimen at room temperature.

Causes for Rejection

Frozen specimen; hemolysis; quantity not sufficient for analysis; improper container; one buccal swab; wet buccal swab

Clinical Information

References

American College of Obstetricians and Gynecologists Committee on Genetics. ACOG committee opinion. Nº 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2004 Aug; 104(2):425-428. 15292027
Kaul R, Gao GP, Aloya M, et al. Canavan disease: Mutations among Jewish and non−Jewish patients. Am J Hum Genet. 1994 Jul; 55(1):34-41. 8023850
Matalon R. Canavan disease: Diagnosis and molecular analysis. Genet Test. 1997; 1(1):21-25. 10464621
Monaghan KG, Feldman GL, Palomaki GE, Spector EB; Ashkenazi Jewish Reproductive Screening Working Group; Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population. Genet Med. 2008 Jan; 10(1):57-72. 18197058

LOINC® Map

Order Code Order Code Name Order Loinc Result Code Result Code Name UofM Result LOINC
511147 Canavan Disease, DNA 511152 Canavan Disease, DNA 21081-5
511147 Canavan Disease, DNA 511942 PDF 51969-4
511147 Canavan Disease, DNA 511005 Jewish Heritage Putaway N/A

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