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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

Overgrowth and Intellectual Disability NGS Panel

Overgrowth and Intellectual Disability NGS Panel

Short Name:
Overgrowth Panel
Gene Name(s):
CDKN1C
DIS3L2
DNMT3A
EZH2
GPC3
NFIX
NSD1
PLOD1
PTCH1
PTEN
RNF135
SETD2
TMCO1
Next Generation Sequencing Deletion / Duplication NGS & Del Dup Comprehensive

Price:

$1950

Price:

$1750

Price:

$3400

CPT:

81408

CPT:

81407

CPT:

81408
81407
Disorder Name(s):
Bannayan Riley Ruvalcaba Syndrome
Beckwith Wiedemann Syndrome
Craniofacial Dysmorphism, Skeletal Anomalies, and Mental Retardation Syndrome
Gorlin Syndrome
Hydroxylysine Deficient Ehlers Danlos Syndrome
Luscan-Lumish Syndrome
Macrocephaly/Autism Syndrome
Macrocephaly, Macrosomia and Facial Dysmorphism Syndrome
Marshall-Smith Syndrome
Overgrowth
Perlman Syndrome
Renal Hamartomas Nephroblastomatosis and Fetal Gigantism
Simpson-Golabi-Behmel Syndrome
Sotos Syndrome
Tatton-Brown-Rahman Syndrome
TMCO1 Defect Syndrome
Weaver Syndrome
Disease Group:
Growth and Development (NGS Panels)
Neurologic (NGS Panels)
OMIM:
600856
614184
602769
601573
300037
164005
606681
153454
601309
601728
611358
616831
614123
General Information:

The 13 gene Overgrowth and Intellectual Disability NGS Panel is compromised primarily of autosomal dominant genes. The exceptions are GPC3, PLOD1 and TMCO1. Targeted testing for the homozygous TMCO1 gene variant found in the Old Order Amish population is also available.

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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