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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

Long QT Syndrome Deletion and Duplication Panel

Long QT Syndrome Deletion and Duplication Panel

Short Name:
Long QT DD Panel
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1950

Price:

$1750

Price:

$3400

CPT:

81408

CPT:

81407

CPT:

81408
81407

OMIM:
604001
106410
114205
114180
114183
601253
176261
603796
152427
600681
600734
607542
180902
608256
600163
601017
603283
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. LQTS can be inherited in both autosomal dominant and autosomal recessive patterns. Autosomal dominant forms may manifested with variable penetrance. The 17 gene Long QT syndrome NGS Panel includes the four most common genes associated with Long QT which account for up to 88% of all cases; KCNQ1, KCNH2, SCN5A and RYR2. The remainder of the genes on this panel are less common and account for less than 5% of all cases. We also offer targeted testing of the KCNQ1 gene for the variant found in the Old Order Amish population.  

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

© 2019 DDC Clinic Molecular Diagnostics Laboratory - All rights reserved.