Thrombocytopenia

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Healthcare providers will do a physical examination. They’ll check for bruises, rashes and other thrombocytopenia symptoms. They’ll ask about your medical history, including any medications you take. They may do tests including: Complete blood count (CBC): Providers will check your platelet levels and your white and red blood cell levels. Peripheral blood smear: Providers examine your platelets under a microscope. …

Neurofibroma

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Healthcare providers typically use a physical examination to diagnose neurofibromas. They might also use the following imaging tests: Computed tomography (CT) scan and magnetic resonance imaging (MRI): Healthcare providers use these tests to find very small tumors. They may also use them to find out where a tumor is located and to identify any nearby tissues or organs that could be affected …

Vocal Cord Paralysis

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To diagnose vocal cord paralysis, your healthcare professional asks about your symptoms and lifestyle. Your care professional also listens to your voice and asks how long you’ve had voice changes. You also may need the following tests: Laryngoscopy. Your healthcare professional looks at your vocal cords using a mirror or a thin, flexible tube known as a laryngoscope or endoscope, or …

Yolk Sac Tumor

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Diagnosis involves a physical examination to check for signs of a yolk sac tumor, like unusual lumps or swelling in your abdomen or testicles. Your healthcare provider will also ask about your symptoms. Tests you may need include: Blood tests. Your provider will check your blood for high levels of alpha-fetoprotein (AFP). Nearly all yolk sac tumors secrete this protein. Imaging tests. Computed tomography …

Autoimmune Encephalitis

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Healthcare providers will do a physical examination. They’ll ask about your symptoms, including how long you’ve had them. They may do the following tests: Blood tests, including complete blood count (CBC) and comprehensive metabolic panel (CMP). Imaging tests, including computed tomography (CT) scans, magnetic resonance imaging (MRI) scans and magnetoencephalography (MEG). Lumbar puncture. Neurological examination.

Autoimmune Epilepsy

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An autoimmune epilepsy diagnosis begins with a physical exam and a review of your symptoms. Testings for autoimmune epilepsy includes lab tests, brain imaging and testing the electrical activity in the brain. Lab tests Lab tests check for antibodies in the immune system that are attacking brain cells and causing seizures. Healthcare professionals test for antibodies by testing your blood …

Turner Syndrome

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Healthcare providers may diagnose Turner syndrome at any stage of a child’s development after birth. Sometimes, they can detect the condition before birth with the following tests: Noninvasive prenatal testing (NIPT): This is a screening blood test for the pregnant parent. It checks for signs that show an increased chance of a chromosomal issue with the fetus. Not every pregnant …

Tuberous Sclerosis

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Experts divide the signs and symptoms into two categories: major and minor features. A confirmed diagnosis of TSC requires two or more major features. Because symptoms may appear over time, a healthcare provider can classify your diagnosis as “possible TSC” if you have only one major feature or at least two minor features. Major features At least three ash leaf …

Truncus Arteriosus

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How is truncus arteriosus diagnosed? A prenatal ultrasound that takes place during pregnancy sometimes detects this heart defect. If an ultrasound indicates a potential problem, you may get a fetal echocardiogram. This type of ultrasound produces images of the fetal heart. After your baby is born, a healthcare provider may use an echocardiogram to diagnose truncus arteriosus.

Tricuspid Valve Regurgitation

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Your healthcare provider will perform a physical exam and order tests as needed to diagnose this condition. During a physical exam, your provider will use a stethoscope to listen to your heart and breathing. A heart murmur is sometimes detectable during an exam. Your provider may also feel your neck and belly (near your liver). Feeling a strong pulse in either place …