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

Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing

Aicardi-Goutieres Syndrome Type 5 (SAMHD1) Targeted Testing

Short Name:
SAMHD1 Targeted
Targeted Testing Price:
$225
Targeted Testing CPT:
81403
Gene Name(s):
SAMHD1
Disorder Name(s):
Aicardi Goutieres Syndrome
Disease Group:
Old Order Amish Targeted Mutation Analysis
OMIM:
606754
General Information:

Aicardi-Goutieres type 5 (AKA SAMS Association) is an autosomal recessive disorder characterized with cerebral vasculopathy and early onset of stroke. The phenotype is highly heterogeneous with a wide range of clinical manifestations and considerably diverse clinical presentations, including cerebral palsy, stroke, developmental delay, failure to thrive, irritability, chilblains and arthritis. The c.1411-2A>G variant at the splice-acceptor site of intron 12 in the SAMHD1 gene is the most frequent pathogenic variant found in the Amish population. This test will specifically analyze the c.1411-2A>G variant.

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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