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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

KCNQ1 Deletion and Duplication Analysis

KCNQ1 Deletion and Duplication Analysis

Short Name:
KCNQ1 Del/Dup
Gene Name(s):
KCNQ1
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$950

Price:

$750

Price:

$1600

CPT:

81406

CPT:

81405

CPT:

81406
81405
Disorder Name(s):
Atrial Fibrillation, Familial
Beckwith Wiedemann Syndrome
Jervell and Lange-Nielson Syndrome
Long QT Syndrome
Short QT Syndrome
Disease Group:
Cardiovascular (Single Gene Tests)
OMIM:
607542
General Information:

Congenital long QT syndrome (LQTS) is a rare heart condition characterized by a prolonged QT interval on ECG/EKG and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death.  Mutations in various genes encoding ion channels are associated with different forms of LQTS. Long QT syndrome 1 is caused by heterozygous mutations in the KCNQ1 gene.

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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