Get familiar with the tests

If your doctor thinks you may have ATTR, they may conduct assessments of heart and nerve function, or order imaging studies or laboratory tests to determine the cause of your symptoms. The diagnostic process may include these preliminary tests.​ 

Tests that measure how well your heart is working:

• Electrocardiography (ECG/EKG) can detect heart-related conditions. Electrodes are used to record electrical activity and the rhythm of the heart.
• Echocardiography (Echo) is a type of imaging that uses ultrasound to visualise the heart structure and measure heart valve function and cardiac muscle strength​.
• Cardiac magnetic resonance imaging (CMRI) is a type of imaging that uses a magnetic field to visualise the heart structure and determine how well blood flows through the heart​.

Tests that measure how well your nerves are working:​

• A nerve conduction study (NCS) can detect nerve damage. It uses electrodes to test the speed at which electrical impulses move through the nerves​.
• Electromyography (EMG) can detect abnormalities in the nerves and muscles by measuring the electrical activity of muscle in response to a nerve’s stimulation​.

Tests that measure how well your nerves are working:​

• A nerve conduction study (NCS) can detect nerve damage. It uses electrodes to test the speed at which electrical impulses move through the nerves​.
• Electromyography (EMG) can detect abnormalities in the nerves and muscles by measuring the electrical activity of muscle in response to a nerve’s stimulation​.

Common tests used to help confirm a diagnosis.

If preliminary test results suggest the possibility of ATTR, your doctor may perform additional tests to help confirm the diagnosis, such as:

• Technetium-99m diphosphonate scintigraphy (DPD scan), which is a non-invasive imaging method to detect amyloid deposits in the heart.
• A tissue biopsy to identify amyloid deposits in the tissues.
• Genetic testing from DNA samples (blood, cheek swab, or saliva) to detect genetic variants in the TTR gene.

Genetic testing is needed to determine if you have wild-type or hereditary ATTR and if other family members should get tested to understand their own risk of developing the disease.

These are not complete lists of tests that can assess symptoms or help confirm a diagnosis related to ATTR. Depending on your symptoms, your doctor may order other tests.