DDC Clinic
Molecular Diagnostics Laboratory

Telephone: 440-632-5532
e-mail: lab@ddcclinic.org

CLIA: 36D1001860
Tax ID: 34-1914344

Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing

Glucose-Galactose Malabsorption (SLC5A1) Targeted Testing

Short Name:
SLC5A1 Targeted
Targeted Testing Price:
Targeted Testing CPT:
Gene Name(s):
General Information:

Glucose/galactose malabsorption (GGM) is a rare autosomal recessive disorder caused by a defect in glucose and galactose transport across the intestinal brush border. Patients with GGM present with neonatal onset of severe watery diarrhea and dehydration while taking glucose-containing or galactose-containing diets. The condition is life-threatening if not diagnosed and treated. Variants in the Na+/glucose cotransporter gene SLC5A1 have been determined to cause the disease. The c.1673G>A (p.Arg558His) variant in exon 14 of the SLC5A1 gene is the most frequent pathogenic variant found in the Amish population. This targeted test will specifically analyze the c.1673G>A variant.

  • 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

© 2020 DDC Clinic Molecular Diagnostics Laboratory - All rights reserved.