| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Rare in nature, disorders related to irregular cholesterol biosynthesis and lipid transport are severe and complex. In many cases, these conditions have similar clinical presentations. Several conditions, including Smith-Lemli-Opitz syndrome (SLOS), Niemann-Pick disease type C (NPC), and cerebrotendinous xanthomatosis (CTX) share pathological hallmarks at the cellular level. Laboratory testing to diagnose the specific condition is important to access emerging therapies and clinical trials.1 Accurate diagnosis and early intervention for individuals impacted by these conditions is critical, as symptoms can be serious and progressive.
We offer a full menu of biochemical and molecular screening assays for cholesterol biosynthesis and transport disorders, including testing for SLOS and related conditions, CTX, and NPC.
In addition, molecular genetic testing for all of the cholesterol biosynthesis and transport disorders presented here, and many others not included in pre-existing panels, is available through our custom gene ordering tool.
Cholesterol biosynthesis and transport test menu
Patients with CTX can present with infantile-onset diarrhea, childhood-onset cataracts, development of tendon/cerebral xanthomas in adolescence and early adulthood, and progressive adult-onset neuropsychological manifestations. The availability of effective therapy for CTX makes early diagnosis and treatment essential. Our test menu includes biochemical assays useful for diagnosis, disease monitoring, and molecular genetic confirmation.
Biochemical testing
Niemann-Pick disease type C has a variable age of onset. Although symptoms are highly variable, progressive neurodegeneration is typical. Our biochemical testing offers a robust screening test and a first-line diagnostic test for NPC which can be confirmed by our molecular genetic test offerings.
Biochemical testing
Our testing is designed for the diagnosis and monitoring of patients with Smith-Lemli-Opitz syndrome (SLOS) and related disorders of cholesterol biosynthesis, including fentanyl-induced embryopathy. Patients may have similar clinical presentations including congenital skeletal malformations, dysmorphic facial features, developmental delays, and failure to thrive.
Biochemical testing
Molecular testing
Our custom gene ordering allows the creation of a custom gene list to tailor molecular testing to a patient’s exact need. After selection of the inborn errors of metabolism disease state, the custom gene panel can be modified to add or remove genes. Through this option, single-gene testing or a custom gene panel can be performed.
Key testing