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Target HCP Specialty

• Cardiologists.

Patient inclusion criteria

• Male and female, of 18 years or older.

• HCM with wall thickness ≥12 mm in one or more LV myocardial segments, measured by any imaging technique (echocardiography, cardiac MRI, or CT)—that is not explained solely by loading conditions.

 

Patient exclusion criteria

• Patients with left ventricular hypertrophy due to severe uncontrolled hypertension or tight aortic stenosis (≤ 1 cm²), or patients with confirmed etiology of HCM.

Gene panel test

• HCM Gene Panel (19 genes): Genes: ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, TTR, CSRP3, JPH2.
• TAT: 20 business days
• Alpha-galactosidase enzyme 
activity.
• TAT: 8 business days. 
• Lyso-Gb3.
• TAT: 20 business days.

Diagnostic Flow

• Gene Panel Results available within 20 business days. • Enzyme Activity Results available within 8 business days.
• Lyso GL-3 Results available within 20 business days.

Manage all your sample requests and results in one place!

Understanding Fabry

About the Disease

X-linked disease caused by a mutation of the GLA gene that results in lysosomal α–galactosidase enzyme deficiency, leading to globotriaosylceramide (GL3) and other glycosphingolipids buildup.

  • Incidence 
    • Fabry disease affects men and women with an incidence of one in 40,000 to one in 117,000 worldwide.2
    • Newborn screening (NBS) studies revealed frequencies of the classic and later-onset phenotypes of up to 1 in 22,570 males and 1 in 1390 males, respectively.

    Prevalence 
    • Estimated prevalence is ∼1:40,000 people.2

    Age of onset 
    • Typical onset is during childhood but may also appear in 60-80 year-old adults.

    1. Michaud, M., Mauhin, W., Belmatoug, N., Garnotel, R., Bedreddine, N., Catros, F., Ancellin, S., Lidove, O., & Gaches, F. (2020). When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences,
    360(6), 641-649. https://doi.org/10.1016/j.amjms.2020.07.011
    2. Saeed, S., & Imazio, M. (2022). Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. Pak J Med Sci, 38(8), 2337-2344. doi: 10.12669/pjms.38.8.7063. PMID: 36415271; PMCID:
    PMC9676584.

  • The disease can be divided into a severe, classical phenotype, most often seen in men without residual enzyme activity, and a generally milder nonclassical phenotype. Patients with classical FD usually present with characteristic FD symptoms, such as
    neuropathic pain, cornea verticillata, and angiokeratoma. Long–term disease manifestations include hypertrophic cardiomyopathy, cardiac rhythm disturbances, progressive renal failure, and stroke.

    Classic FD is characterized by childhood or adolescent onset of symptoms followed by progressive multi-organ failure, and eventually death.

    Nonclassical FD, also referred to as later-onset or atypical FD, is characterized by a more variable disease course, in which patients are generally less severely affected and disease manifestations may be limited to a single organ. Age of later-onset FD is variable.

    1. Michaud, M., Mauhin, W., Belmatoug, N., Garnotel, R., Bedreddine, N., Catros, F., Ancellin, S., Lidove, O., & Gaches, F. (2020). When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences,
    360(6), 641-649. https://doi.org/10.1016/j.amjms.2020.07.011
    2. Saeed, S., & Imazio, M. (2022). Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. Pak J Med Sci, 38(8), 2337-2344. doi: 10.12669/pjms.38.8.7063. PMID: 36415271; PMCID:
    PMC9676584.

  • Confirmation of Fabry disease in males involves assesing enzyme activity and molecular confirmation. For females, enzyme activity and Lyso-GL-3 levels are evaluated in parallel. Molecular testing is perfomed for confirmation if either or both initial tests are positive.1

    After Fabry diagnosis is confirmed, detailed pedigree analysis and cascade genetic testing of at-risk family members (family screening) should be performed. This approach is a powerful tool to increase the number of patients identified and improve early diagnosis. Family screening can help identify from 5 to 15 affected individuals related to each index case.3

    1. Michaud, M., Mauhin, W., Belmatoug, N., Garnotel, R., Bedreddine, N., Catros, F., Ancellin, S., Lidove, O., & Gaches, F. (2020). When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences,
    360(6), 641-649. https://doi.org/10.1016/j.amjms.2020.07.011
    2. Saeed, S., & Imazio, M. (2022). Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. Pak J Med Sci, 38(8), 2337-2344. doi: 10.12669/pjms.38.8.7063. PMID: 36415271; PMCID:
    PMC9676584.
    3. Laney & Fernhoff, 2008; Rozenfeld et al., 2019.

  • Enzyme replacement therapy with a-galactosidase A enzyme is a key component in the management of Fabry disease and has been proven to help normalize renal function, cardiac function, and cerebrovascular flow.

    In addition, chaperone therapy for patients with mutations considered amenable are available depending on the region. Supportive therapy is necessary to manage specific symptoms and complications.2

    1. Michaud, M., Mauhin, W., Belmatoug, N., Garnotel, R., Bedreddine, N., Catros, F., Ancellin, S., Lidove, O., & Gaches, F. (2020). When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences,
    360(6), 641-649. https://doi.org/10.1016/j.amjms.2020.07.011
    2. Saeed, S., & Imazio, M. (2022). Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. Pak J Med Sci, 38(8), 2337-2344. doi: 10.12669/pjms.38.8.7063. PMID: 36415271; PMCID:
    PMC9676584.

  • • Fabry disease can cause serious complications such as kidney failure, strokes, heart failure and sudden cardiac death.

    1. Michaud, M., Mauhin, W., Belmatoug, N., Garnotel, R., Bedreddine, N., Catros, F., Ancellin, S., Lidove, O., & Gaches, F. (2020). When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences,
    360(6), 641-649. https://doi.org/10.1016/j.amjms.2020.07.011. https://pubmed.ncbi.nlm.nih.gov/32723516/
    2. Saeed, S., & Imazio, M. (2022). Fabry disease: Definition, Incidence, Clinical presentations and Treatment - Focus on cardiac involvement. Pak J Med Sci, 38(8), 2337-2344. doi: 10.12669/pjms.38.8.7063. PMID: 36415271; PMCID:
    PMC9676584. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9676584/

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