Diagnosis Diagnosing Tay-Sachs disease typically involves reviewing symptoms, discussing any family history of hereditary disorders and doing a physical examination. Your child may also be referred to specialists such as a neurologist for a detailed nervous system evaluation and an ophthalmologist for an eye exam. Several tests help confirm the diagnosis and identify the genetic cause of the condition. A …
Total Anomalous Pulmonary Venous Return (TAPVR)
Diagnosis A congenital heart defect may be diagnosed during pregnancy or after birth. Some heart defects can be seen on a routine fetal ultrasound. After birth, a healthcare professional may suspect a congenital heart defect if the baby shows: • Growth delays• Color changes in the lips, tongue, or nails• Heart murmurs detected with a stethoscope. Most murmurs are harmless, …
Tapeworm Infection
Diagnosis Diagnosing a tapeworm infection depends on whether the infection involves adult tapeworms in the intestines or larval cysts in other parts of the body. For an intestinal infection, a healthcare provider examines stool samples. A lab test may find tapeworm segments or eggs, and you may need to provide samples on more than one day to confirm the diagnosis. …
Systemic Mastocytosis
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
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
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
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
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
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
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.