Tay-Sachs Disease

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A healthcare provider will diagnose Tay-Sachs disease after a blood test. To perform this test, a healthcare provider will remove a small sample of blood from your child’s body, either their heel or a vein in their arm. Their provider will measure the level of the enzyme hexosaminidase A in the blood sample. In a child with classic Tay-Sachs disease, …

Total Anomalous Pulmonary Venous Return (TAPVR)

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Cardiologists can sometimes diagnose this condition with an echocardiogram before birth. Some babies don’t get a diagnosis until they’re several weeks or months old. After your baby is born, their provider will do a physical exam and listen to your baby’s heart. A pulse oximeter (pulse ox) can measure the amount of oxygen in your baby’s blood. It fits over your baby’s big toe …

Tapeworm Infection

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If you suspect you might have an intestinal tapeworm, look for worm segments in your poop. If you have an invasive larval infection, you may find lumps on your body where the cysts have adhered. But if the cysts are more internal, you may not find them until they begin to cause complications. Complications might happen if the cysts grow …

Systemic Mastocytosis

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Providers may do the following tests to diagnose this condition: Blood tests:Providers may do blood tests to check on the amount of tryptase in your blood. Tryptase is an enzyme that mast cells release when they’re reacting to intruders. Bone scan: Providers may use a bone scan to look for signs of bone damage. Bone marrow biopsy:Providers look for unusual …

Syringomyelia

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To diagnose syringomyelia, your healthcare provider will review your medical history and perform a physical exam focusing on neurological function. They may refer you to a neurologist, a provider who specializes in disorders of the brain and nervous system. Your provider will likely order imaging tests of your spine or brain. In some cases, healthcare providers discover syringomyelia accidentally on imaging …

Syphilis

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Your healthcare provider will ask about your sexual history, including whether you practice safe sex. It’s important to be honest during this discussion. Your provider can help assess your risk and recommend tests for other STIs. To test for syphilis, your provider will examine you and take a blood sample to look for signs of the infection. Your provider may …

Synovial Sarcoma

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A healthcare provider will do a physical examination and ask you about your symptoms and health history. If they think you might have synovial cell sarcoma, they’ll refer you to an oncologist for further testing. An oncologist will examine you and use imaging tests to see the size and location of the tumor. Imaging tests might include: X-rays. Magnetic resonance imaging (MRI). Ultrasound. Computed …

Suspicious Breast Lumps

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Diagnosis of a breast lump involves getting an exam and possibly tests to find out the cause of the lump. During the physical exam, your healthcare professional checks your breasts, chest wall, underarms and neck. You’re checked while you’re sitting upright and again while lying on your back. You’ll likely need one or more imaging tests to check for changes …

Supraventricular Tachycardia

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During a physical exam, your healthcare provider will ask about your medical history and the symptoms you’ve been having. They’ll most likely do an electrocardiogram (EKG or ECG). If your provider needs to study your heart for a longer amount of time, they may ask you to wear a heart monitor that records the electrical activity in your heart.

Sunburn

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Your healthcare provider can evaluate the seriousness of your sunburn. They look at the amount of skin that’s burned, the severity of your sunburn and your symptoms. Then they can recommend the appropriate treatment.