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.

Home

DDC Clinic
Molecular Diagnostics Laboratory

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

CLIA: 36D1001860
Tax ID: 34-1914344
www.ddccliniclab.org

SNIP1 Deletion and Duplication Analysis

SNIP1 Deletion and Duplication Analysis

Short Name:
SNIP1 Del/Dup
Gene Name(s):
SNIP1
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1200

Price:

$750

Price:

$1850

CPT:

81405

CPT:

81403

CPT:

81405
81403
Disorder Name(s):
Symptomatic Epilepsy and Skull Dysplasia
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
Disease Group:
Neurologic (Single Gene Tests)
OMIM:
608241
General Information:

Symptomatic epilepsy and skull dysplasia caused by the SNIP1 gene is an autosomal recessive disorder characterized by psychomotor retardation, seizures, dysmorphic features, and ‘lumpy’ skull surface.  

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

© 2023 DDC Clinic Molecular Diagnostics Laboratory - All rights reserved.

Site by: Waterline Websites and Marketing