Special Notice

Due to COVID-19, we are currently experiencing temporary interruptions in our supply chain. We may not be able to process your specimen at this time. Please call 440-632-5532 before ordering any test.

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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

Cowden Syndrome NGS Panel

Cowden Syndrome NGS Panel

Short Name:
Cowden Panel
Gene Name(s):
AKT1
PIK3CA
PTEN
SDHB
SDHD
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1450

Price:

$1250

Price:

$2500

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Proteus Syndrome
Clove Syndrome
Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi
Megalencephaly Cutis Marmorata Telangiectatica Congenita
Cowden Syndrome
Bannayan Riley Ruvalcaba Syndrome
Macrocephaly/Autism Syndrome
PTEN Hamartoma Tumor Syndrome
Gastrointestinal Stromal Tumors
Paragangliomas
Pheochromocytoma
Disease Group:
Growth and Development (NGS Panels)
Neurologic (NGS Panels)
OMIM:
164730
171834
601728
185470
602690
General Information:

Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome share clinical characteristics such as hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms. Both conditions and several other distinctive phenotypes are caused by mutations in the PTEN gene. Cowden syndrome is a genetically heterogeneous disorder with a large number of cases due to PTEN mutations.

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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