DDC Clinic
Molecular Diagnostics Laboratory

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

CLIA: 36D1001860
Tax ID: 34-1914344

SLC5A1 Whole Gene Sequencing

SLC5A1 Whole Gene Sequencing

Short Name:
SLC5A1 Sequence
Gene Name(s):
General Information:

Glucose/galactose malabsorption 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. Mutations in the Na+/glucose cotransporter gene SLC5A1 have been determined to cause the disease.

Targeted Mutation Analysis available for Old Order Amish
Next Gen Sequencing with Sanger Sequencing as needed to confirm abnormal and rare variants as well as areas of low or inadequate coverage.
Analytical Validity:

The detection rate for sequence variants is 99-100%. A negative test result reduces but does not eliminate the possibility of a functional deficiency of any of the listed genes as such a deficiency may be due to a variant in a genomic region not covered by the test (promoter or deep intronic regions of the genes). Copy number changes encompassing all or a portion of any of the listed genes will not be detected by this analysis.

CPT Code:


4 weeks or less

Specimen Information:

Label specimens with the patient’s full name as indicated on the test requisition, date of birth, date of collection, and source (if appropriate).

Peripheral Blood - Please use the tube size appropriate for the sample volume.

  • 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 - Please use the tube size appropriate for the sample volume.

  • 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, 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

© 2018 DDC Clinic Molecular Diagnostics Laboratory - All rights reserved.