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Molecular Diagnostic Laboratory 1600 Rockland Road, Wilmington, DE 19803 302.651.6775 email: MDL memoirs.org BARTH SYNDROME TAX GENE SEQUENCING Barth syndrome (OMIT 302060) is due to mutations in

How to fill out testing for barth syndrome

How to fill out testing for Barth syndrome:

1. Contact a healthcare professional: If you suspect that you or your child may have Barth syndrome, it is important to reach out to a healthcare professional who specializes in genetic testing and rare genetic disorders.
2. Schedule an appointment: Once you have found a healthcare professional, schedule an appointment to discuss your concerns and go over the testing process. They will be able to guide you through the necessary steps and provide you with the appropriate information.
3. Medical history evaluation: During your appointment, the healthcare professional will evaluate your medical history and ask you specific questions related to Barth syndrome symptoms and risk factors. This information will help determine if testing for Barth syndrome is necessary.
4. Physical examination: The healthcare professional may conduct a physical examination to assess any physical abnormalities or symptoms associated with Barth syndrome. They may also take measurements and perform tests related to muscle function and heart health.
5. Genetic testing: The definitive way to diagnose Barth syndrome is through genetic testing. This involves a blood sample which will be sent to a specialized laboratory for analysis. The laboratory will examine specific genes associated with Barth syndrome, such as the TAZ gene.
6. Genetic counseling: Depending on the results of the genetic testing, the healthcare professional may recommend genetic counseling. This involves meeting with a genetic counselor who can provide information and support regarding the implications of the diagnosis, inheritance patterns, and family planning options.

Who needs testing for Barth syndrome:

1. Infant boys with unexplained heart abnormalities: Barth syndrome primarily affects males, and one of the primary symptoms is cardiomyopathy or unexplained heart abnormalities. If an infant boy has symptoms such as a weak and enlarged heart, testing for Barth syndrome may be recommended.
2. Boys with unexplained muscle weakness and fatigue: Another common symptom of Barth syndrome is muscle weakness and fatigue. Boys who exhibit these symptoms, particularly with associated cardiomyopathy or growth delay, may require testing for Barth syndrome.
3. Family members of individuals with Barth syndrome: Since Barth syndrome is a genetic disorder, there may be a risk of other family members carrying the gene mutation. In such cases, testing might be recommended to identify carriers or individuals who also have the syndrome.

It is important to note that this is not an exhaustive list, and the decision to undergo testing for Barth syndrome should be made in consultation with a healthcare professional based on specific symptoms, medical history, and family history.

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What is testing for barth syndrome?

Testing for Barth syndrome involves genetic testing to identify mutations in the TAZ gene.

Who is required to file testing for barth syndrome?

Individuals suspected of having Barth syndrome due to symptoms or family history are required to undergo testing.

How to fill out testing for barth syndrome?

Testing for Barth syndrome is typically done through a blood sample that is sent to a genetic testing laboratory.

What is the purpose of testing for barth syndrome?

The purpose of testing for Barth syndrome is to confirm a diagnosis and provide information for treatment and management.

What information must be reported on testing for barth syndrome?

The results of genetic testing, including any mutations found in the TAZ gene, must be reported on testing for Barth syndrome.