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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 Syndromes NGS Panel

Aicardi-Goutieres Syndromes NGS Panel

Short Name:
AGS panel
Gene Name(s):
ADAR
IFIH1
RNASEH2A
RNASEH2B
RNASEH2C
SAMHD1
TREX1
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1200

Price:

$1250

Price:

$2250

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Aicardi Goutieres Syndrome
Chilbain Lupus
Symmetrical Dyschromatosis of Extremities
Systemic Lupus Erythematosus
Disease Group:
Neurologic (NGS Panels)
OMIM:
606034
610326
606609
610330
606754
146920
606951
General Information:

Most infants with Aicardi-Goutières syndrome (AGS) manifest after the first few weeks of life with a subacute onset of a severe encephalopathy characterized by extreme irritability, intermittent sterile pyrexias, loss of skills, and slowing of head growth usually resulting in severe intellectual and physical handicap. A subgroup of infants with AGS present at birth with symptoms suggestive of congenital infection; abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia. Homozygous and compound heterozygous variants in RNASEH2A, RNASEH2B, TREX1, RNASEH2C, and SAMHD1 cause AGS. Heterozygous inherited and de novo variants in TREX1, ADAR and IFIH1 lead to AGS.

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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