DDC Clinic
Molecular Diagnostics Laboratory

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

CLIA: 36D1001860
Tax ID: 34-1914344

Periodic Fever, 6 Gene NGS Panel

Periodic Fever, 6 Gene NGS Panel

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













General Information:

This Periodic Fever, 6 Gene NGS Panel includes the most common periodic fever genes; MEFV, MVK, NLRP12, NLRP3, NOD2 and TNFRSF1A. Periodic fever syndromes are also known as autoinflammatory disorders. Symptoms may include abdominal pain, joint pain, rash and recurring fever that is not associated with an infectious cause. Children as well as adults can be affected. Treatment aimed at prevention of symptoms is available for many of the periodic fever syndromes. The specific treatment is dependent on which gene is involved.

Sequence errors are the primary type of disease-causing variant in these 6 genes and as such will be detected by this test if present. The chance of finding a disease-causing variants varies with ethnic background and specific symptoms. The OMIM gene number can be used to link to complete disease summaries.

An expanded Periodic Fever NGS Panel for coverage of an additional 3 genes is available as well. Customization of the gene panel is also available upon request. 

  • 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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