Special Notice

Due to COVID-19, we are currently experiencing temporary interruptions in our supply chain. We may not be able to process your specimen at this time. Please call 440-632-5532 before ordering any test.

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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

Pyruvate Kinase Deficiency (PKLR) Targeted Testing

Pyruvate Kinase Deficiency (PKLR) Targeted Testing

Short Name:
PKLR Targeted
Targeted Testing Price:
$225
Targeted Testing CPT:
81403
Gene Name(s):
PKLR
Disorder Name(s):
Pyruvate Kinase Deficiency
Disease Group:
Old Order Amish Targeted Mutation Analysis
OMIM:
609712
General Information:

Pyruvate kinase (PK) deficiency of erythrocyte is the most frequent enzyme abnormality of the glycolytic pathway causing hereditary non-spherocytic hemolytic anemia. The disease is transmitted as an autosomal recessive trait. The severity of hemolysis is highly variable, ranging from very mild or fully compensated forms to life-threatening neonatal anemia necessitating exchange transfusions. The c.1436G>A (p.Arg479His) variant in exon 9 of the PKLR gene is the pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1436G>A variant.

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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