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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

Neurodegeneration with Brain Iron Accumulation NGS Panel

Neurodegeneration with Brain Iron Accumulation NGS Panel

Short Name:
NBIA Panel
Gene Name(s):
ATP13A2
C19ORF12
CP
DCAF17
FA2H
FTL
PANK2
PLA2G6
WDR45
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1900

Price:

$1250

Price:

$2950

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Beta Propeller Protein Associated Neurodegeneration
Deficiency of Ferroxidase
Hyperferritinemia Cataract Syndrome
Hypobetalipoproteinemia
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrocardiographic Abnormalities
Infantile Neuroaxonal Dystrophy
L-Ferritin Deficiency
Neurodegeneration with Brain Iron Accumulation
Neuroferritinopathy
Parkinson Disease
Pigmentary Pallidal Degeneration
Spastic Paraplegia
Disease Group:
Neurologic (NGS Panels)
OMIM:
610513
614297
237300
612515
611026
134790
606157
603604
300526
General Information:

Most of the genes associated with Neurodegeneration Brain Iron Accumulation are inherited in an autosomal recessive manner. The two exceptions are WDR45 which is X-linked and FTL which is autosomal dominant, both of which may be inherited or de novo. A two gene NGS panel for the dominant genes is available upon request. We also offer targeted testing of the PANK2 gene for the homozygous variant found in the Old Order Amish population.   

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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