Polymerase Chain Reaction (PCR) detection of E285A, Y231X (C->A), 433(-2)A->G, and A305E mutations
Carrier testing for individuals with family history; prenatal diagnosis in at-risk pregnancies; carrier screening for Individuals of Ashkenazi Jewish Descent; confirmation of clinical diagnosis (however, note that testing for N-acetylaspartic acid in urine is the preferred method of establishing the diagnosis of Canavan Disease).
Interpretive report provided
10 - 14 days
- Canavan Disease Mutation
Collect specimen in sufficient yellow top (ACD) solution A or a lavender top tubes. Send intact whole blood at room temperature. Amniotic Fluid (20 mL in 2 sterile tubes, refrigerated) or Chorionic Villus (20 mg in sterile transport medium, refrigerated) specimens are also acceptable. All prenatal specimens must be accompanied by a maternal blood specimen.
Test sent to Mayo Medical Laboratories.