What’s New
Testing for Diagnosing Rare Diseases
We explain testing tips for diagnosing rare diseases.
Meet Camila, an HCP. Today, she’ll be ordering tests for a patient who is presenting symptoms of a lysosomal storage disorder (or LSD). Camila doesn’t order tests for rare diseases very often and knows the process can be different. Luckily, she remembers the testing tips, Ryan, her Sanofi MSL has given her.
Camila knows that LSDs are caused by the deficiency of an enzyme, which is due to pathogenic variants in DNA. That’s why it’s important to perform both enzyme and DNA tests for diagnosis. Camila informs her patient about the tests, and lets him know that results are usually straightforward, but occasionally can be ambiguous. However, if he tests positive for an LSD, Camila will refer him to a specialist along with genetic counselling for assistance.
Camila would like some guidance on which type of test to perform. She remembers Ryan giving her the Sanofi Dx one page handout. Camila references it to refresh her memory about rare diseases and specialty lab options. Then, she contacts a specialty lab to get advice on which test to order first. The lab professional also reminds Camila that enzyme testing requires a blood sample, and molecular testing requires blood or saliva, or cheek swab.
Ryan advised Camila that it’s helpful to send samples for both the enzyme test and the DNA test to the same specialty lab, when possible. This is because one test result can help inform the other. While specialty testing differs from her normal testing procedures, Camila still thinks about what she would normally do. She contacts her hospital lab send-out department, and asks them to help organize the specialty testing. Camila’s hospital send-out lab calls the specialty lab to confirm the procedures. They then tell Camila how to order the tests in her system.
Now she’s ready to order. Camila is sure to include her direct contact information on the samples. That way, the specialty lab can contact her if there are questions about the patient. She also provides them with the patient’s clinical symptom information to help inform their interpretations.
After sending out the tests, Camila thinks about the possible molecular testing results: uncertain significance, pathogenic, or likely pathogenic. She also recalls that enzyme test results can sometimes be borderline. At first, Camila is concerned about how she may handle each scenario with her patient, who has been waiting years for a diagnosis. Then, she remembers she can contact her genetics colleagues or the lab director for guidance!
A few days later, Camila receives a call from the specialty lab. It’s a good thing she included her contact information on the samples! The lab would like to clarify some additional information about the patient. A nurse contacts Camila when the tests results finally arrive.
Camila has confirmed that the enzyme results are deficient and the molecular results are pathogenic. So Camila refers the patient to an LSD specialist and genetic counsellor to follow up on his care. By understanding the resources that are available to her, Camila has successfully ordered and interpreted specialty testing. Now her patient can get the proper care for his disease.
For additional information on diagnosing lysosomal storage disorders visit the Sanofi website.
We explain testing tips for rare diseases.
Meet Camila, an HCP. Today, she’ll be ordering tests for a patient who is presenting symptoms of a lysosomal storage disorder (or LSD). Camila doesn’t order tests for rare diseases very often and knows the process can be different. Luckily, she remembers the testing tips, Ryan, her Sanofi MSL has given her.
Camila knows that LSDs are caused by the deficiency of an enzyme, which is due to pathogenic variants in DNA. That’s why it’s important to perform both enzyme and DNA tests for diagnosis. Camila informs her patient about the tests, and lets him know that results are usually straightforward, but occasionally can be ambiguous. However, if he tests positive for an LSD, Camila will refer him to a specialist along with genetic counselling for assistance.
Camila would like some guidance on which type of test to perform. She remembers Ryan giving her the Sanofi Dx one page handout. Camila references it to refresh her memory about rare diseases and specialty lab options. Then, she contacts a specialty lab to get advice on which test to order first. The lab professional also reminds Camila that enzyme testing requires a blood sample, and molecular testing requires blood or saliva, or cheek swab.
Ryan advised Camila that it’s helpful to send samples for both the enzyme test and the DNA test to the same specialty lab, when possible. This is because one test result can help inform the other. While specialty testing differs from her normal testing procedures, Camila still thinks about what she would normally do. She contacts her hospital lab send-out department, and asks them to help organize the specialty testing. Camila’s hospital send-out lab calls the specialty lab to confirm the procedures. They then tell Camila how to order the tests in her system.
Now she’s ready to order. Camila is sure to include her direct contact information on the samples. That way, the specialty lab can contact her if there are questions about the patient. She also provides them with the patient’s clinical symptom information to help inform their interpretations.
After sending out the tests, Camila thinks about the possible molecular testing results: uncertain significance, pathogenic, or likely pathogenic. She also recalls that enzyme test results can sometimes be borderline. At first, Camila is concerned about how she may handle each scenario with her patient, who has been waiting years for a diagnosis. Then, she remembers she can contact her genetics colleagues or the lab director for guidance!
A few days later, Camila receives a call from the specialty lab. It’s a good thing she included her contact information on the samples! The lab would like to clarify some additional information about the patient. A nurse contacts Camila when the tests results finally arrive.
Camila has confirmed that the enzyme results are deficient and the molecular results are pathogenic. So Camila refers the patient to an LSD specialist and genetic counsellor to follow up on his care. By understanding the resources that are available to her, Camila has successfully ordered and interpreted specialty testing. Now her patient can get the proper care for his disease.
For additional information on diagnosing lysosomal storage disorders visit the Sanofi website.
MAT-US-2023126 v4.0
Exp. Date: 07/31/2025
Next in General Resources