GenomeTM – Danon Disease Genetic Testing Program
Do you have a patient with a clinical history consistent with Danon disease or suspicion of an inherited cardiomyopathy? Do you have a family member with Danon disease? Scroll down to learn more.
Are you a healthcare professional interested in learning more? Fill out the form below to have an Ambry representative contact you.
The Mission: Genome™ – Danon Disease Program can help provide answers for those with suspected Danon Disease. Through the program, individuals suspected of having Danon Disease have access to genetic testing and counseling to help bring them one step closer to a diagnosis and the appropriate clinical management. No patients, healthcare professionals, or payers, including government payers, are billed for this program.
Around 15,000 people in the United States are living with Danon Disease¹ — a rare and serious genetic condition. Its symptoms often start with signs of heart disease but can also include abnormal EKG results, muscle weakness, cognitive challenges, vision problems, and digestive issues.² The disease can move fast, leading to stroke, heart failure that may require a transplant, or even sudden cardiac death from arrhythmias. That’s why early diagnosis is critical. Recognizing the signs early gives patients and doctors a better chance to manage the condition and monitor for dangerous complications before they escalate.³
Testing Eligibility
This program is available to patients under 40 years of age in the United States with a high suspicion of an inherited cardiomyopathy. Must meet one of the criteria below:
- A family history of Danon Disease
- A diagnosis of cardiomyopathy
(excluding cases due to acquired causes, i.e. medical induced, viral infection, etc.)
A custom ordering form will ship with each kit
How Does the Program Work?
The Mission: Genome™ – Danon Disease Genetic Testing Program utilizes Ambry’s CardioNext®, a 92-gene panel for patients with inherited cardiomyopathies, arrhythmias, and other inherited cardiovascular conditions. Given the genetic and clinical overlap between these conditions, a comprehensive inherited cardiovascular test is an effective way of identifying at-risk individuals, or confirming a diagnosis.
ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, CACNA1C, ABCC9, ACTC1, ACTN2, AKAP9, ALMS1, ALPK3, ANK2, ANKRD1, BAG3, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CRYAB, CSRP3, DES, DMD, DOLK, DSC2, DSG2, DSP, EM, DEYA4, FHL1, FKRP, FKTN, FLNC, GATAD1, GLA, GPD1L, HCN4, JPH2, JUP, KCND3, KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYOZ2, MYPN, NEXN, NKX2-5, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RYR2, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SNTA1, SOS1, TAZ, TBX20, TBX5, TCAP, TECRL, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, TXNRD2, VCL
92-gene panel for patients with inherited cardiomyopathies, arrhythmias, and other inherited cardiovascular conditions.
Healthcare Provider
To place your online test kit order, Click here and follow prompts.
*The kit requests for this program are blood and saliva only. When selecting the TRF type select “Mission Genome – Rocket”
To place a paper-based order, download and complete the Test Requisition Form (TRF). Include it with the specimen.
Use the provided Ambry Genetics’ Test Kit to collect the patient’s blood, buccal, or saliva sample after reviewing the specimen and shipping requirements.
Submit the kit and completed TRF using the instructions provided.
Results are available 2-3 weeks after Ambry receives the sample. The ordering healthcare provider will receive a notification once the test results are ready.
References
- Rocket Pharmaceuticals. Data on file. Danon Disease.
- Hong KN, Eshraghian EA, Arad M, et al. International consensus on differential diagnosis and management of patients with Danon disease: JACC state-of-the-art review. J Am Coll Cardiol. 2023;82(16):1628-1647.
- D’Souza RS, Levandowski C, Slavov D, et al. Danon disease: clinical features, evaluation, and management. Circ Heart Fail. 2014;7(5):843-849.
- Ommen SR, Mital S, Burke MA, et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College
of Cardiology/American Heart Association joint committee on clinical practice guidelines. Circulation. 2020;142(25):e558-e631.