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  3. Canavan disease

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Test Canavan disease

  • Canavan disease
  • Info

Description

Canavan disease, also called Canavan–van Bogaert–Bertrand disease, is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy.
Genes:
ASPA
Disorders:
Leukodystrophy
Clinical Utility:
Confirmation of a clinical diagnosis, Carrier testing in unaffected family members

Methods

Sanger sequencing - 700lv.

Description:
Delivery Time:
10 days
Sample:
2-5 Ml Venous Blood Sample / DNA sample
Alternative:
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