Special Notice

Our website is undergoing changes and some listed testing may not be available any longer.  Except for Amish targeted testing and GAP testing, please call prior to ordering to be sure a test is available.

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DDC Clinic
Molecular Diagnostics Laboratory

Telephone: 440-632-5532
e-mail: lab@ddcclinic.org

CLIA: 36D1001860
Tax ID: 34-1914344
www.ddccliniclab.org

Amish Heart Disease Risk Panel

Amish Heart Disease Risk Panel

Short Name:
Amish Heart Panel
Targeted Testing CPT:
81403x3
Gene Name(s):
MYBPC3
DSP
KCNQ1
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

Price:

Price:

CPT:

CPT:

CPT:

Disorder Name(s):
Hypertrophic Cardiomyopathy
Dilated Cardiomyopathy
Arrhythmogenic Right Ventricular Cardiomyopathy
Long QT Syndrome
Cardiomyopathy
Familial Hypertrophic Cardiomyopathy
Epidermolysis Bullosa, Lethal Acantholytic
Keratosis Palmoplantaris Striata
Skin Fragility Woolly Hair Syndrome
Jervell and Lange-Nielson Syndrome
Disease Group:
Old Order Amish Targeted Mutation Analysis
OMIM:
600958
125647
607542
General Information:

This test analyzes three founder mutations in the Amish population related to heart disease risk: c.3330+2T>G variant in MYBPC3, c.699G>A variant in DSP, and c.451_452delCT variant in KCNQ1. Clinical overlap between these three founder mutations includes progressive heart failure, sudden cardiac death, and syncope, arrhythmia, shortness of breath, and cardiac arrest. All three founder mutations are tested at once to provide the best risk assessment for patients in the Amish community.

Turn-around:
  • Specimen Requirements

    Label specimens with the patient’s full name, date of birth, collection date and source (if appropriate). Please use the tube size appropriate for the sample volume.

    Peripheral Blood

    • Infants: Minimum of 2-3 ml of whole blood in a purple top (EDTA) tube.
    • Adults and children over 2 years of age: Minimum of 3-5 ml of whole blood in a purple top (EDTA) tube.


    Cord Blood

    • Minimum of 3-5 ml of whole blood in a purple top (EDTA) tube.


    Isolated DNA

    • Minimum of 50 µl at a concentration of 100 ng/µl. Please include concentration on the specimen label.
  • Storage and Shipping Information

    Blood samples are stable at room temperature (15ºC to 25ºC) for one day or at 2º to 8ºC for up to 5 days. Blood samples should not be frozen at any time.

    DNA sample stability is dependent on the methodology used for the isolation. In general the DNA should be stable and can be shipped ambient or cold, following the directions below.

    Specimens from outside facilities should be packaged according to standard medical safety practices. Refrigerate samples if stored overnight prior to shipping. In hot weather, include a cool pack in the shipping container. Do not allow the specimen to freeze at any time. Package the completed test requisition inside the packaging container with the specimen. Please ship by overnight priority.

    Specimens should not be shipped on Fridays, Saturdays or the day preceding a holiday.

    **Holiday schedules will be noted on our website at least one week prior to the holiday. Feel free to contact us with any questions.

Shipping Address:

DDC Clinic Molecular Diagnostics Laboratory
14567 Madison Rd
Middlefield OH 44062

Contact Information:

Telephone: 440-632-5532
Fax: 440-632-1697
Email: lab@ddcclinic.org

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