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Test ID: CANP Canavan Disease, ASPA Mutation Analysis, Varies

Useful For

Carrier testing for Canavan disease in individuals of Ashkenazi Jewish ancestry


Prenatal diagnosis of Canavan disease in at-risk pregnancies


Confirmation of a suspected clinical diagnosis of Canavan disease in individuals of Ashkenazi Jewish ancestry

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
CULFB Fibroblast Culture for Genetic Test Yes No
CULAF Amniotic Fluid Culture/Genetic Test Yes No
MATCC Maternal Cell Contamination, B Yes No

Testing Algorithm

For prenatal specimens only: If amniotic fluid (nonconfluent cultured cells) is received, amniotic fluid culture will be added at an additional charge. If a chorionic villus specimen (nonconfluent cultured cells) is received, a fibroblast culture will be added at an additional charge. For any prenatal specimen that is received, maternal cell contamination studies will be added.

Method Name

Polymerase Chain Reaction (PCR)/Targeted Sanger Sequencing

Reporting Name

Canavan Disease, Mutation Analysis

Specimen Type


Additional Testing Requirements

All prenatal specimens must be accompanied by a maternal blood specimen; order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on the maternal specimen.

Shipping Instructions

Specimen preferred to arrive within 96 hours of collection.

Specimen Required

Patient Preparation: A previous bone marrow transplant from an allogenic donor will interfere with testing. Call 800-533-1710 for instructions for testing patients who have received a bone marrow transplant.


Submit only 1 of the following specimens:   Specimen Type: Whole blood


Preferred: Yellow top (ACD) or lavender top (EDTA)

Acceptable: Any anticoagulant

Specimen Volume: 2.6 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube. Do not aliquot.

Specimen Stability Information: Ambient (preferred) 4days/Refrigerated/Frozen


Prenatal Specimens

Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.


Specimen Type: Amniotic fluid

Container/Tube: Amniotic fluid container

Specimen Volume: 20 mL

Specimen Stability Information: Refrigerated (preferred)/Ambient


Specimen Type: Chorionic villi

Container/Tube: 15-mL tube containing 15 mL of transport media

Specimen Volume: 20 mg

Specimen Stability Information: Refrigerated



Specimen Type: Confluent cultured cells

Container/Tube: T-25 flask

Specimen Volume: 2 Flasks

Collection Instructions: Submit confluent cultured cells from another laboratory.

Specimen Stability Information: Ambient (preferred)/Refrigerated

Specimen Minimum Volume

Blood: 0.5 mL
Amniotic Fluid: 10 mL
Chorionic Villi: 5 mg

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Varies

Clinical Information

Canavan disease is a severe leukodystrophy resulting from a deficiency of the enzyme aspartoacylase. Variants in the ASPA gene cause the clinical manifestations of Canavan disease. The deficiency of aspartoacylase leads to spongy degeneration of the brain, and the disease is characterized by delayed development beginning at age 3 to 6 months, head lag, macrocephaly, and hypotonia. Death usually occurs within the first decade of life.


The carrier rate in the Ashkenazi Jewish population is 1 in 41. Four ASPA variants are included in this test: 433 (-2)A>G, A305E, E285A, and Y231X. The E285A and Y231X variants account for approximately 98% of the variants found in the Ashkenazi Jewish population. The A305E variant accounts for approximately 50% of the variants found in the non-Ashkenazi Jewish population.

Reference Values

An interpretive report will be provided.


An interpretative report will be provided.

Clinical Reference

1. Gross SJ, Pletcher BA, Monaghan KG, Professional Practice and Guidelines Committee: Carrier screening in individuals of Ashkenazi Jewish descent. Genet Med. 2008 Jan;10(1):54-56

2. ACOG Committee Opinion No. 442; Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. Obstet Gynecol. 2009 Oct;114(4):950

3. Matalon R: Canavan disease: diagnosis and molecular analysis. Genet Test. 1997;1(1):21-25

4. Matalon R, Delgado L, Michals-Matalon K: Canavan disease. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 1999. Updated September 13, 2018. Accessed June 1, 2021. Available at

Day(s) Performed


Report Available

2 to 12 days

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81200-ASPA aspartoacylase (eg, Canavan disease) gene analysis, common variants (eg, E285A, Y231X)


88233-Tissue culture, skin or solid tissue biopsy (if appropriate)

88235-Tissue culture for amniotic fluid (if appropriate)

88240-Cryopreservation (if appropriate)

81265-Comparative analysis using Short Tandem Repeat (STR) markers; patient and comparative specimen (eg, pre-transplant recipient and donor germline testing, post-transplant non-hematopoietic recipient germline [eg, buccal swab or other germline tissue sample] and donor testing, twin zygosity testing or maternal cell contamination of fetal cells (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
CANP Canavan Disease, Mutation Analysis 46990-8


Result ID Test Result Name Result LOINC Value
53143 Result Summary 50397-9
53144 Result 82939-0
53145 Interpretation 69047-9
53146 Reason for Referral 42349-1
53147 Specimen 31208-2
53148 Source 31208-2
53149 Released By 18771-6


1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Molecular Genetics: Biochemical Disorders Patient Information (T527) in Special Instructions

Mayo Clinic Laboratories | Genetics and Pharmacogenomics Catalog Additional Information: