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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

Familial Atrial Septal Defect, Isolated, Nonsyndromic Deletion and Duplication Panel

Familial Atrial Septal Defect, Isolated, Nonsyndromic Deletion and Duplication Panel

Short Name:
ASD Del/Dup Panel
Gene Name(s):
ACTC1
GATA4
MYH6
MYH7
NKX2-5
TBX20
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1750

Price:

$1250

Price:

$2800

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Atrial Septal Defect
Atrioventricular Septal Defect
Hypoplastic Left Heart Syndrome
Tetralogy of Fallot
Ventricular Septal Defect
Disease Group:
Cardiovascular (NGS Panels)
OMIM:
102540
600576
160710
160760
600584
606061
General Information:

The genes most often associated with isolated nonsyndromic familial atrial septal defect are NKX2-5, followed by GATA4 and then MYH6 with the additional genes in the panel comprising a small percentage of cases as well.

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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