Get the free Barth Syndrome Testing- TAZ Sequencing - cincinnatichildrens

This document details the procedure for testing the TAZ gene to confirm a diagnosis of Barth syndrome, including testing methodology, specimen requirements, and pricing.

How to fill out barth syndrome testing- taz

How to fill out Barth Syndrome Testing- TAZ Sequencing

1. Obtain a referral from a healthcare provider familiar with Barth Syndrome.
2. Complete any necessary pre-appointment paperwork and medical history forms.
3. Schedule an appointment with a genetic testing laboratory that offers TAZ sequencing.
4. Provide a blood sample or other required biological material as instructed by the laboratory.
5. Ensure that the sample is labeled correctly and sent to the lab in accordance with their guidelines.
6. Wait for the laboratory to process the sample and generate the results.
7. Follow up with your healthcare provider to discuss the results and any further steps.

Who needs Barth Syndrome Testing- TAZ Sequencing?

1. Individuals showing symptoms of Barth Syndrome, such as cardiac issues, muscle weakness, or growth delays.
2. Families with a history of Barth Syndrome who are concerned about inheritance patterns.
3. Patients whose doctors suspect Barth Syndrome based on clinical evaluations.

People Also Ask about

How many people in the world have Barth syndrome?

Allen had spent countless hours researching her son's symptoms and had even come across studies on Barth syndrome, but Henry's early doctors thought he likely had another condition due to the syndrome's rarity. Fewer than 400 estimated people worldwide, predominately males, are currently diagnosed.

What is the life expectancy of someone with Barth syndrome?

Males with Barth syndrome have a reduced life expectancy. Many affected children die of heart failure or infection in infancy or early childhood, but those who live into adulthood can survive into their late forties.

What is the life expectancy of ischemic cardiomyopathy?

Ischemic cardiomyopathy is a morbid condition with a 10-year mortality rate of 60%.

What is the TAZ gene Barth syndrome?

TAZ gene mutations that cause Barth syndrome result in the production of tafazzin proteins with little or no function. As a result, linoleic acid is not added to cardiolipin, which causes problems with normal mitochondrial shape and functions such as energy production and protein transport.

How long can you live with Barth syndrome?

Many affected children die of heart failure or infection in infancy or early childhood, but those who live into adulthood can survive into their late forties. Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.

How do you test for Barth syndrome?

How is Barth syndrome diagnosed? If your doctor suspects your child has Barth syndrome, he or she may perform or blood tests to check for signs of the condition. If these tests indicate that your child may have Barth syndrome, a diagnosis can be confirmed with genetic testing.

What is the life expectancy of a person with dilated cardiomyopathy?

The one-year survival rate for patients with DCM is approximately 80%, decreasing by about 10% each subsequent year. The five-year survival rate is roughly 50%. Complications such as mitral valve regurgitation or diastolic dysfunction are associated with a poorer prognosis.

How do you treat Barth syndrome?

There is no cure or specific treatment for Barth syndrome. Treatment focuses on reducing symptoms and preventing complications. These treatments may include: Physical therapy to help babies with reduced muscle tone.

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What is Barth Syndrome Testing- TAZ Sequencing?

Barth Syndrome Testing - TAZ Sequencing is a genetic test used to identify mutations in the TAZ gene, which are linked to Barth syndrome, a rare genetic disorder affecting primarily males. This syndrome is characterized by cardiac and skeletal myopathy, neutropenia, and growth delays.

Who is required to file Barth Syndrome Testing- TAZ Sequencing?

Patients exhibiting symptoms consistent with Barth syndrome, such as cardiomyopathy, or those with a family history of the disorder, are typically required to undergo Barth Syndrome Testing - TAZ Sequencing. This can also include newborns and males with unexplained health issues.

How to fill out Barth Syndrome Testing- TAZ Sequencing?

To fill out the Barth Syndrome Testing - TAZ Sequencing form, ensure to provide accurate patient information, including demographics, clinical history, family medical history, and any relevant symptoms. Follow the specific laboratory instructions for submission and include necessary consent forms.

What is the purpose of Barth Syndrome Testing- TAZ Sequencing?

The purpose of Barth Syndrome Testing - TAZ Sequencing is to confirm or rule out a diagnosis of Barth syndrome by detecting mutations in the TAZ gene. This can help guide treatment options and inform genetic counseling for affected families.

What information must be reported on Barth Syndrome Testing- TAZ Sequencing?

The report must include the presence of any identified mutations in the TAZ gene, the interpretation of these findings, genetic counseling recommendations, and the clinical significance of the results. Additionally, family history and any related phenotype observations should be included.