Canavan Genetic Test
Canavan Screening in Kenya
Canavan is a rare, progressive, metabolic, genetic disorder that begins in infancy (within 2 to 6 months), where the brain degenerates into spongy tissue full of small fluid-filled spaces. In this case, the breakdown (metabolism) of the N-acetyl aspartic acid (NNA) is affected. The Canavan genetic test determines if one is a carrier of the defective gene that causes Canavan disease.
Canavan Symptoms
An abnormally large head (macrocephaly).
Lack of head movement control or support.
Decreased muscle tone resulting in "floppiness," (hypotonia).
Delays in reaching developmental milestones such as independent sitting and walking..
Intellectual disability.
Difficulty swallowing and feeding.
Blindness.
Paralysis.
Development of Seizures.
Most affected children develop life-threatening complications by 10 years of age.
Inheritance Pattern
The Canavan disease occurs because of mutations in the aspartoacylase (ASPA) gene. It is inherited as an autosomal recessive condition. The child inherits a copy of the mutated ASPA gene from each parent which will lead to Canavan disease. In this case, the breakdown (metabolism) of the N-acetyl aspartic acid (NNA) is affected.
Who should Get Tested?
Canavan screening is recommended for the following people:
Anyone with the signs and symptoms above.
Any individual or couple going through assisted reproduction, including IVF.
Family or personal history of canavan genetics and inheritance.
People with a family history of a genetic mutation.
High-risk population groups for specific diseases.
Couples who are already pregnant and want to know whether their child has a risk of having a genetic disease.
Any individual wishing to know more about their genetic background.
Sperm and oocyte donors, and recipients of sperm or oocyte donation.
Test Description
This is a panel test that checks for canavan disease plus 228 other genetic conditions.
Required Samples
A simple cheek swab sample is needed.
Turnaround Time
Results come out in 2-3 weeks