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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

Hyperekplexia Deletion and Duplication Panel

Hyperekplexia Deletion and Duplication Panel

Short Name:
Hyperekplexia DelDup
Gene Name(s):
ARHGEF9
GLRA1
GLRB
GPHN
SLC6A5
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1450

Price:

$1250

Price:

$2500

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Hereditary Hyperekplexia
Early Infantile Epileptic Encephalopathy
Molybdenum Cofactor Deficiency
Hyperekplexia
Disease Group:
Neurologic (NGS Panels)
OMIM:
300429
138491
138492
603930
604159
General Information:

The GLRA1 and SLC6A5 genes are responsible for about 50% of cases of Hereditary Hyperekplexia. GLRB makes up a small percent. GPHN and ARHGEF9 have both been reported in hyperekplexia so are included in this panel. 

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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