ARUP's Laboratory Test Directory

Canavan (ASPA) 4 Mutations, Fetal : 0051454
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Time Sensitive
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Patient History for Fetal Molecular Testing


Mnemonic: ASPA FE

Ordering Recommendation: Diagnostic testing for Canavan disease.
Methodology: Polymerase Chain Reaction/ASPE Bead Array
Performed: Tue, Thu
Reported: 7-10 days
Specimen Required: Collect: Fetal Specimen: Two T-25 flasks at 80% confluency of cultured amniocytes. If the client is unable to culture amniocytes, this can be arranged by contacting ARUP Client Services at (800) 522-2787. Or amniotic fluid.
AND Maternal Cell Contamination Specimen: Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).

Specimen Preparation: Cultured Amniocytes: Fill flasks with culture media. Transport two T-25 flasks at 80% confluency of cultured amniocytes. Backup cultures must be retained at the client's institution until testing is complete.
OR Amniotic Fluid: Transport 10 mL unspun fluid. (Min: 5 mL)
AND Maternal Cell Contamination Specimen: Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature: Cultured Amniocytes: CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to liability of cells.
Amniotic fluid: Room temperature.
Maternal Cell Contamination Specimen: Room temperature.

Remarks: Maternal specimen is recommended for proper test interpretation. Order Maternal Cell Contamination. Patient History Form is available on the ARUP Web site or by contacting ARUP Client Services.

Stability (collection to initiation of testing): Fetal Specimen: Ambient: 48 hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Maternal Cell Contamination Specimen: Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Reference Interval:
By report
Interpretive Data: Background information for Canavan (ASPA) 4 Mutations, Fetal:
Characteristics: A neurodegenerative brain disorder resulting in macrocephaly and lack of head control by three to five months of age. Affected individuals fail to achieve sitting, ambulation, or speech, and often die in early childhood to teen years.
Incidence: 1 in 10,000 Ashkenazi Jewish individuals, unknown in other ethnicities.
Inheritance: Autosomal recessive.
Cause: Deleterious ASPA gene mutations.
Mutations detected: Y231X(C>A), E285A, A305E, 433(-2)A>G ; benign polymorphism Y231Y(C>T).
Clinical Sensitivity: 98 percent in Ashkenazi Jewish; 55 percent in non-Ashkenazi Jewish.
Methodology: Genomic DNA is assayed by PCR and allele-specific primer extension by bead array with fluorescence detection.
Analytical Sensitivity and Specificity: Greater than 99 percent.
Limitations: Deleterious mutations other than Y231X, E285A, A305E, 433(-2)A>G will not be detected. Rare diagnostic errors may occur due to primer site mutations.

For quality assurance purposes, ARUP Laboratories will confirm the above result at no charge following delivery. Order Confirmation of Fetal Testing and include a copy of the original fetal report (or the mother's name and date of birth) with the test submission. Please contact an ARUP genetic counselor at (800) 242-2787 extension 2141 prior to specimen submission.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS
CPT Code(s): 81200; Fetal Cell Contamination (FCC): 81265