Medical Genomics Lab

Please note: 

The moratorium for the RNA-based biopsy testing of neurofibromas will remain in place until further notice (test code: NF14N*).

*Neurofibromas can still be tested using next generation sequencing but cannot be tested via RNA

Given the rapidly changing situation and the complexities of these testing approaches, please contact the MGL if you are considering this test or would like to discuss a specific case.

The Medical Genomics Laboratory (MGL) is a CAP-certified nonprofit clinical laboratory at the University of Alabama at Birmingham, offering comprehensive testing for common and rare genetic disorders.  The MGL specializes in testing for all forms of the neurofibromatoses including NF1, Legius syndrome (SPRED1 disorder), segmental NF, NF-Noonan, spinal NF, Watson syndrome, NF2, and schwannomatosis as well as the RASopathies, and tuberous sclerosis complex. 

UAB Medical Genomics Laboratory720 20th St. S., Suite 330Birmingham, AL 35294Phone: 205.934.5562Fax: 205.996.2929E-mail: medgenomics@uabmc.edu 

Tell us how we are doing! Please complete our customer satisfaction survey and share your feedback! Please click here for survey. 

Governing Medical Knowledge Commons

Crossref Citations

Cook-Deegan, Robert Ankeny, Rachel A. and Maxson Jones, Kathryn 2017. Sharing Data to Build a Medical Information Commons: From Bermuda to the Global Alliance. Annual Review of Genomics and Human Genetics, Vol. 18, Issue. 1, p. 389.

Boyd, Robert Richerson, Peter J. Meinzen-Dick, Ruth De Moor, Tine Jackson, Matthew O. Gjerde, Kristina M. Harden-Davies, Harriet Frischmann, Brett M. Madison, Michael J. Strandburg, Katherine J. McLean, Angela R and Dye, Christopher 2018. Tragedy revisited. Science, Vol. 362, Issue. 6420, p. 1236.

Dekker, Erwin and Kuchaa, Pavel 2018. Governing Markets as Knowledge Commons: Introduction. SSRN Electronic Journal,

POTTS, JASON 2018. Governing the innovation commons. Journal of Institutional Economics, Vol. 14, Issue. 6, p. 1025.

Sanfilippo, Madelyn Frischmann, Brett and Standburg, Katherine 2018. Privacy as Commons: Case Evaluation Through the Governing Knowledge Commons Framework. Journal of Information Policy, Vol. 8, Issue. , p. 116.

Nagle, Frank 2018. The Digital Commons: Tragedy or Opportunity? A Reflection on the 50th Anniversary of Hardin’s Tragedy of the Commons. SSRN Electronic Journal ,

Sanfilippo, Madelyn Frischmann, Brett and Standburg, Katherine 2018. Privacy as Commons: Case Evaluation Through the Governing Knowledge Commons Framework. Journal of Information Policy, Vol. 8, Issue. , p. 116.

Sterner, Beckett W. Gilbert, Edward E. and Franz, Nico M. 2020. Decentralized but Globally Coordinated Biodiversity Data. Frontiers in Big Data, Vol. 3, Issue. ,

Bruynseels, Koen 2020. When nature goes digital: routes for responsible innovation. Journal of Responsible Innovation, Vol. 7, Issue. 3, p. 342.

Dekker, Erwin and Kuchař, Pavel 2020. The Ostrom Workshop: Artisanship and Knowledge Commons. SSRN Electronic Journal ,

Dekker, Erwin and Kuchař, Pavel 2021. Governing Markets as Knowledge Commons. p. 1.

Sanfilippo, Madelyn Rose Frischmann, Brett M. and Strandburg, Katherine J. 2021. Governing Privacy in Knowledge Commons. p. 5.

Goyal, Yugank 2021. Governing Markets as Knowledge Commons. p. 176.

Sanfilippo, Madelyn Rose Frischmann, Brett M. and Strandburg, Katherine J. 2021. Governing Privacy in Knowledge Commons. p. 1.

Bruynseels, Koen 2021. Responsible innovation in synthetic biology in response to COVID-19: the role of data positionality. Ethics and Information Technology, Vol. 23, Issue. S1, p. 117.

Sanfilippo, Madelyn Strandburg, Katherine J. and Frischmann, Brett M. 2021. Governing Privacy in Knowledge Commons. p. 268.

Farrer, Benjamin 2022. Political Communication as a Tragedy of the Commons. Political Studies, p. 003232172211384.

Dekker, Erwin and Kuchař, Pavel 2023. Markets and knowledge commons: Is there a difference between private and community governance of markets?. Public Choice,

Rimmer, Matthew 2023. The Medical Right to Repair: Intellectual Property, the Maker Movement, and COVID-19. Sustainability, Vol. 15, Issue. 20, p. 14839.

What are the symptoms of type 2 diabetes?

Type 2 diabetes occurs when blood sugar levels rise due to issues with how the body uses or produces insulin. Symptoms may include frequent urination, increased thirst, and blurry vision.

It can appear at any age, but it is more likely to occur after the age of 45 years. In 2019, 37.3 million Americans had diabetes, mostly type 2.

This article examines the early signs and symptoms of type 2 diabetes, the risk factors, and potential complications.

Type 2 diabetes occurs when a person’s body no longer responds to insulin correctly. This is called insulin resistance. After some time, the pancreas makes less and less insulin.

Insulin is a hormone that regulates the movement of blood glucose, or sugar, into cells, which use it as energy.

When sugar cannot enter cells, too much glucose collects in the blood, and the body cannot use it for energy.

A doctor may diagnose diabetes if a person’s blood sugar levels are 126 milligrams per deciliter (mg/dl) or above after fasting for 8 hours.

What are the risk factors for diabetes?

The symptoms of high blood sugar in type 2 diabetes tend to appear gradually. Not everyone will notice symptoms in the early stages, but they may appear over time.

If symptoms do occur, they may include the following:

When too much glucose builds up in the bloodstream, the kidneys cannot reabsorb it. The body removes the excess glucose in the urine, taking water from the body with it. This can lead to excessive thirst and the need to drink and urinate more.

When there is too little insulin, the body may start burning fat and muscle for energy. This causes weight loss.

When cells lack glucose, the body becomes tired. Fatigue can interfere with daily life when a person has type 2 diabetes.

High blood glucose can cause fluid to be pulled from the lenses of the eyes, resulting in swelling, and leading to temporarily blurred vision.

A person may notice itching around the penis or vagina or frequent Candida infections. Infections and sores may take longer to resolve because diabetes impacts blood circulation.

If people notice these symptoms, they should consult a doctor. Diabetes can lead to several serious complications. The sooner a person starts managing glucose levels, the better the chance of preventing complications.

Type 2 diabetes is more likely to appear after the age of 45 years, but it can affect children and teens who:

Symptoms will be the same as for adults, as mentioned above.

If a child or teen has these symptoms, they should talk with a doctor. They may be signs of type 2 diabetes but can also indicate type 1 diabetes.

Type 1 is less common but more likely to affect children and teenagers than adults.

Learn more about how diabetes affects children and teens and how to spot the symptoms early.

Around 29.2% of people aged 65 and above have type 2 diabetes in the United States. They may have some or all the classic symptoms of type 2 diabetes.

They may also experience one or more of the following:

Diabetes can lead to a range of skin changes, some of which may be early warning signs.

Examples include:

Learn more about the early signs of type 2 diabetes.

A person with prediabetes will not have any symptoms, but they will have blood sugar levels of 100–125 mg/dl.

Their blood sugar levels are high, but they do not have diabetes. Taking action at this stage can prevent diabetes from developing.

The Centers for Disease Control Prevention (CDC) estimate that around 96 million American adults have prediabetes, but 80% do not know they have it.

Diabetes may cause a number of health complications if people are unable to manage it. Many are long term, but some need immediate medical attention.

Complications can arise quickly if blood sugar rises or falls too far.

Hypoglycemia

Hypoglycemia, or low blood sugar, is when blood glucose dips below 70 mg/dl.

This can happen if a person who uses insulin takes more than they need for a particular time. It can also occur with other medications that treat diabetes, such as sulfonylureas.

A home blood glucose test can check for hypoglycemia.

It is vital to know the early signs of hypoglycemia, as it can progress quickly, resulting in seizures and a coma. In the early stages, however, it is easy to treat.

Symptoms of hypoglycemia include:

If symptoms are mild, a person can often resolve low blood sugar levels by consuming 15 grams (g) of carbohydrates, for example, by consuming:

The person should then wait 15 minutes, test their blood sugar, and if it is still low, repeat the process with another 15 g of carbohydrates.

When levels return to above 70 mg/dl, the person should eat a meal, to stabilize their glucose levels.

If glucose levels remain low or symptoms worsen, someone should take the person to the emergency room.

Anyone who has frequent or severe hypoglycemic episodes should speak with a doctor, as they may need to adjust their treatment plan.

Hyperglycemia and diabetic ketoacidosis (DKA)

If blood sugar levels rise too far, hyperglycemia can result. If a person notices increased thirst and urination they should check their blood sugar levels.

If the level is above the target level agreed with a doctor, the person should do some exercise to reduce the level.

However, a person should not exercise if their blood glucose levels are 240 ml/dl or above, as this could be a sign of diabetic ketoacidosis (DKA).

DKA can develop if a person has hyperglycemia and does not take action to reduce it. DKA happens when high levels of ketones collect in the blood, making it too acidic. For this reason, the person should also test their ketone levels.

Ketoacidosis can lead to:

A person with these signs and symptoms should seek immediate medical attention, as DKA can be life threatening.

People who regularly experience high blood sugar should discuss adjusting their treatment plan with their doctor.

What types of diabetic emergencies are there?

Keeping blood glucose within target levels can prevent long-term complications.

Here are some complications that can arise:

Effective management of blood glucose levels can reduce the risk of complications.

A doctor can diagnose type 2 diabetes with a range of blood tests that measure blood glucose levels. Many people discover they have high blood sugar during a routine screening test, but anyone who experiences symptoms should see a doctor.

Which tests do doctors use to diagnose diabetes?

Treatment aims to keep blood glucose levels stable at a healthy level and prevent complications. The main ways to do this are through lifestyle measures.

These include:

Some herbs and supplements may also help.

Find out more about the different types of diabetes and their treatment options.

There is currently no cure for diabetes, but lifestyle measures can help most people manage their blood sugar levels and reduce the risk of complications. If these do not help, a doctor may prescribe medication.

People who receive a diagnosis of prediabetes may be able to slow, stop, or reverse the progress of diabetes.

If a person is unable to manage their blood glucose levels, complications can arise. Some of these can be life threatening.

Here are some questions people often ask about type 2 diabetes.

Type 2 diabetes is caused by problems with a chemical in the body (hormone) called insulin.

It’s often linked to being overweight or inactive, or having a family history of type 2 diabetes.

Type 1 diabetes is a lifelong condition where the body’s immune system attacks and destroys the cells that produce insulin.

Meanwhile, type 2 diabetes is when the body does not produce enough insulin, or the body’s cells do not react to insulin properly.

There is no cure for type 1 diabetes but type 2 can be prevented and it can potentially be put into remission.

There is no cure for diabetes, but lifestyle measures, such as exercise and dietary choices, can help manage it. In some cases, a person may need medication.

Often, the first time a person knows they have type 2 diabetes is after a routine blood test, possibly for another condition. If symptoms occur, they include an increased need to urinate, thirst, fatigue, blurry vision, and feeling hungrier than usual.

Type 2 diabetes starts when the body becomes unable to use insulin effectively. The body produces more insulin to help itself process glucose in the blood. Over time, the body can no longer make enough insulin, and blood glucose levels rise. This can lead to complications.

Type 2 diabetes often has no symptoms in the early stages, and people often find out they have it during a routine blood test.

If symptoms appear, they include feeling thirsty and needing to urinate more often, having frequent infections, fatigue, and unexplained weight loss.

Current guidelines recommend regular screening from the age of 45 years or younger if an individual has other risk factors, such as obesity. A doctor can advise on individual needs.

Anyone who has concerns about diabetes should seek medical advice. An early diagnosis can help slow the progression of type 2 diabetes and prevent complications.