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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

Cornelia de Lange Deletion and Duplication Analysis Panel

Cornelia de Lange Deletion and Duplication Analysis Panel

Short Name:
CDL Del/Dup Panel
Gene Name(s):
HDAC8
NIPBL
RAD21
SMC1A
SMC3
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1500

Price:

$1250

Price:

$2550

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Cornelia de Lange Syndrome
De Lange Syndrome
Congenital Muscular Hypertrophy - Cerebral Syndrome
Wilson-Turner Syndrome
Disease Group:
Growth and Development (NGS Panels)
Neurologic (NGS Panels)
OMIM:
300269
608667
606462
300040
606062
General Information:

The majority of patients (~60%) with Cornelia de Lange will have a heterozygous variant in NIPBL. The remainder of the genes on this panel comprise another 10% of patients. Large deletions/duplications will not be detected with this testing.

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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