Diagnosing OI is primarily a clinical process. It is often difficult or inconclusive without a physician familiar with the disorder.

Osteogenesis Imperfecta is a relatively rare disorder. Ultrasound can often detect severe cases of Osteogenesis Imperfecta during pregnancy. Genetic testing may be able to identify the mutation, particularly if the parent's mutation is also known. But in many cases, bone fractures that occur with little or no trauma are often the first indication that a person has Osteogenesis Imperfecta.

In people with Osteogenesis Imperfecta, one of the genes that tells the body how to make a specific protein is defective.

This protein (type I collagen) is a major component of the connective tissues in bones. Type I collagen is also important in forming ligaments, teeth, and the white outer tissue of the eyeballs (sclera).

As a result of the defective gene, not enough type I collagen is produced, or the collagen that is produced is of poor quality. In either case, the result is fragile bones that break easily but can heal at a normal rate.

A doctor can often make the diagnosis of OI after a thorough physical examination using the above symptoms as guides, as well as a review of a family’s medical history. However, sometimes it is necessary to perform laboratory tests in order to confirm the disease. These tests will either be biochemical to test the collagen or molecular to examine the genetic pattern of the disease. The results of the lab test often take several weeks.

Multiple broken bones are common. Other features include deafness, white of the eyes appear bluish, tooth abnormalities, chest deformities and short stature. There is no specific treatment. Genetic counseling is important for families with the disease.

Determining the bone disorder Osteogenesis Imperfecta can be difficult for some doctors, especially when the individual has OI types I or V. The main method that doctors classify Osteogenesis Imperfecta is through the “Clinical features,” (physical symptoms) of an individual. Doctors consult a family medical history to see if there have ever been any family members with bone disorders.

First, you will want to find a doctor who is very knowledgeable of the brittle bone disorder. If you need to find a doctor in your area who is knowledgably of this disease you can s call the Osteogenesis Impefecta Foundation at (800)-981-2663. Your doctor will need to go over the following questions:

• Fractures - amount and age of occurrence and activity that caused the fracture.

• Teeth problems.

• Hearing loss.

• Gray/Blue sclera - the "whites" of the eyes.

• Hypermobility of the joints (i.e. hips, knees pop out or are more flexible).

• Double jointed fingers, toes.

• Thin, transparent skin.

• Excessive sweating.

• Scoliosis.

• Hernias.

• Heart valve problems.

• Any type of bone or skin disease.

• Any metabolic mineral/vitamin deficiencies.

Clinical geneticists can also perform Collagen or DNA tests that can help analyze this bone disorder in some situations. They look at the amount of collagen in the bones and how it is “framed,” (configured) within the bone. These tests generally require several weeks before results are known. Approximately ten to fifteen percent of individuals with this bone disorder who have collagen testing and approximately five percent of those who have genetic testing test negative for OI despite having the disorder. DEXA Bone Mineral Density Scans are also performed to diagnose this bone disorder.

Dermatologists may perform a test known as a Fibroplast Skin Biopsy to examine the amount and structure of collagen to test if a bone disorder is present. A small circle of skin is punched out of the skin in the forearm. During this process, the patient is put under topical anesthesia to minimize the pain. One or two stitches is usually required to close the area. The sterile sample of skin is then placed in a sealed container and sent to a lab to be cultured so that the skin fibroblast cells can grow and produce collagen. There are only a few labs in the United States that can perform this test. The sample is then isolated and protein studies are completed - gel electrophoresis. A protein will migrate various distances through a gel based on its size, number of charges, and shape. A big protein doesn't go very far and small proteins move the furthest.

In some forms of this bone disorder, the collagen defect involves the structure of the collagen molecule (malformed). These collagens may behave differently in the gel. In type I OI, the defect is that normal collagen is produced but in decreased amounts. A standard gel electrophoresis does not provide a measurement of quantity. There are no strength tests done on the collagen. A weak, defective collagen that behaves normally in the gel would also result in a negative OI diagnosis. The skin biopsy has a accuracy rate between 85-87%, which means that it is possible to have a false negative result, where the patient actually does have the bone disorder, but receives a negative test result. Undetected strains, including mild forms of this bone disorder, may fall into the 13-15% error ratio or the patient may simply have the bone disorder based on other genes or quantity of collagen that the test is not capable of identifying. Truly, a clinical diagnosis of evaluating the patient, family history and x-rays is the best and most thorough way to test for this bone disorder.

Hospitals may take x-rays as a test that uses and invisible electromagnetic energy beam that produces the images of internal tissue, bones, and organs onto film for the doctors and parents to examine for bone disorders. You can request a copy of your x-rays and the hospital will generally not charge you for the copies if they are aware you are taking them to a doctor for further consultation. The doctor that you visit that is knowledgeable with fragile bones will need copies of your x-rays from your medical history file. When reading the radiology report, there may be references on the radiology reports for the x-rays such as "mild Osteopenia" (which means lower bone density), "mild bowing", "worming bones", or "thin cortices". These symptoms are consistent with a bone disorder.

Because [genetic] mutations have not been detected in every patient with a clinical diagnosis of OI, these tests can not be used to conclude that an individual does not have OI.