Special Notice

Our website is undergoing changes and some listed testing may not be available any longer.  Except for Amish targeted testing and GAP testing, please call prior to ordering to be sure a test is available.

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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

Nemaline Congenital Myopathy NGS Panel

Nemaline Congenital Myopathy NGS Panel

Short Name:
NCM Panel
Gene Name(s):
ACTA1
CFL2
KBTBD13
NEB
TNNT1
TPM2
TPM3
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1950

Price:

$1250

Price:

$3000

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Nemaline Myopathy
Congenital Myopathy with Fiber Type Disproportion
Arthrogryposis Multiplex
Distal Arthrogryposis
Disease Group:
Neurologic (NGS Panels)
OMIM:
102610
601443
613727
161650
191041
190990
191030
General Information:

The nemaline myopathies are neuromuscular disorders characterized by muscle weakness and rod-shaped "nemaline" inclusions in skeletal muscle fibers. The Nemaline Myopathy NGS Panel includes the common autosomal recessive genes as well as the autosomal dominant TPM2.  We also offer targeted testing of the TNNT1 gene for the homozygous variant (c.538G>T) 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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