Precision is a Choice
Mrs Lam and Her Son's Story
"Thanks to MD35 Panel, my son can live like a normal kid."
This story is inspired by our users' experiences and feedbacks and is presented here as illustration. Since each patient is unique, our services should not be seen in any way as guaranteeing outcomes.
My son has been diagnosed with Type 1 diabetes at a young age. As a diabetic child, his life has always been a little different from his peers. Since receiving insulin treatment, he cannot leave the house without his insulin pen. He underwent many different therapies but his condition never improved much.
It all changed when our endocrinologist suggested that he should get tested for Maturity Onset Diabetes of the Young (MODY) – a type of young-onset diabetes caused by a single gene mutation. While diabetes runs in our family, and we have several diabetic patients among us, his condition does not exactly match typical clinical presentations seen in common types of diabetes. When he tested positive for a known MODY mutation, we realised he has been misdiagnosed as Type 1 diabetes since childhood. MD 35 Panel shed light on my son’s diagnosis and prompted our endocrinologist to change his treatment. Now my son uses oral medications to keep his blood sugar levels under control and rarely suffers episodes of low blood sugar. Despite being a young diabetic child, despite MODY, he can still live normally and is now able to follow his friends everywhere.
Monogenic Diabetes Panel - MD35
Decode the final mysteries of diabetes
Monogenic diabetes is a subtype of diabetes caused by a single gene mutation. Maturity Onset Diabetes of the Young (MODY) is a main form of monogenic diabetes and usually diagnosed in late childhood to adulthood. It affects 1-2% of patients with diabetes and about 4% of patients with diabetes diagnosed under the age of 30. The clinical presentation of MODY usually overlaps with other types of diabetes, making misdiagnosis common in diabetic children with MODY.
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People with young-onset diabetes,
especially those who are diagnosed before the age of 40 with multiple generations of diabetes
Autoantibody negative and substantial endogenous C-peptide level with a disease duration of more than 3 years
How it helps
There are different types of MODY, and the most appropriate treatment can be determined by identifying the specific type of MODY. The classification of subtypes is essential in young people. Testing can help doctors make an important decision including changes in medications such as replacing insulin with oral drugs in some MODY patients. Patients can benefit from personalized treatment, be informed of their prognosis and family planning. Premarital screening is suggested for patients with MODY to inform them the risk of their future children inheriting the diabetes.
Extended family screening and/or cascade screening is also recommended to advise patients' family members of their risk of inheriting MODY.
Shields BM, Shepherd M, Hudson M, McDonald TJ, Colclough K, Peters J, Knight B, Hyde C, Ellard S, Pearson ER, Hattersley AT. Population-Based Assessment of a
Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset Patients. Diabetes Care. 2017;40(8):1017-1025.
Carroll RW, Murphy R. Monogenic Diabetes: A Diagnostics Algorithm for Clinicians. Genes. 2013;4(4):522-535