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The document is a consent form for diagnostic genetic testing for Huntington Disease (HD) at the Molecular Genetics Laboratory in Dublin, Ireland. It outlines the implications of the test, including potential outcomes regarding the presence of HD and associated risks for offspring. The form requires personal information from the patient and includes sections for medical staff to confirm consent capacity and rationale for testing. It emphasizes the importance of informed consent and consideration of family views when applicable.

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What are the genetic markers for cystic fibrosis?

Cystic fibrosis is an inherited disease caused by mutations in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR). The CFTR gene provides instructions for the CFTR protein . People who inherit two copies of a mutated CFTR gene (one copy from each biological parent) will have cystic fibrosis.

How to get genetic testing for cystic fibrosis?

Yes, a baby can be tested for CF before birth. If the mother and father are both carriers of altered CF genes, or if the mother is a carrier, genetic testing for CF can be done before birth. To learn more, ask your doctor, obstetrician, midwife, or genetic counselor.

Is there a free genetic testing for cystic fibrosis?

The Mutation Analysis Program (MAP), funded by the Cystic Fibrosis Foundation and administered by The Johns Hopkins Genomics DNA Diagnostic Laboratory (JHGDDL), is a free and confidential genetic testing program for people with a confirmed or strongly suspected diagnosis of cystic fibrosis.

What is the CPT code for cystic fibrosis genetic testing?

CPT 83891; 83900; 83901(x14); 83909; 83912; 83914(x35) Test Includes Detection of 32 CF mutations, plus 5T/7T/9T variants. Questionnaire must accompany specimens. Call 800-345-4363 to request forms.

How to get tested for cystic fibrosis gene?

Genetic tests can diagnose CF, but these tests are often used to find out if a person carries an altered gene. The standard test to diagnose CF is called the sweat test. It measures the salt in a persons sweat.

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How much does a CF carrier test cost?

The CF carrier test costs about $200 $300 per person. You need to check with your own insurance company to see if they will pay. How can I get more information?

Which parent carries the gene for cystic fibrosis?

A person must inherit 2 CF genes to have CF disease. When your child was conceived, he or she received a CF gene from both you and your partner. A child can inherit CF only if both parents carry a CF gene (that is, each parent either has CF or is a carrier) and both parents pass the CF gene on to their child.

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