Diagnostic Test Directory

Molecular Genetics Laboratory

CHOP in the News

Clinical Lab Products quotes Avni Santani, PhD, Scientific Director, Molecular Genetics Laboratory, in a story about next-gen sequencing. Read the story »

Laboratory Update

Testing for the Noonan spectrum of disorders is now available at the Molecular Genetics Laboratory. Learn more about Noonan spectrum testing »

Glucose Transporter type 1 Deficiency Syndrome (SLC2A1)Sequence and Deletion/Duplication Analysis

  • Synonyms: GLUT1, GLUT1-DS
  • LIS Mnemonic: MBSLC2A1FS


    Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is also acceptable.

    Volume Required

    5 ml whole blood or 3 ug extracted DNA

    Minimum Required

    3 ml whole blood


    Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.


    Whole blood can be refrigerated until shipment.

    Unacceptable conditions

    Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.

    Specimen Handling

    Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.

Days Performed

Mon - Fri 9:00am to 4:00pm


4-5 weeks


81479, 81405

Disease Information

Clinical Features:

Glucose transporter type 1 deficiency syndrome (Glut1-DS) is an autosomal dominant disorder characterized by reduced transport of glucose in to the brain. Affected patients present with infantile-onset epileptic encephalopathy associated with delayed neurologic development, acquired microcephaly, ataxia, dystonia and spasticity. Patients with atypical phenotypes present with developmental delay and movement disorders without epilepsy. The diagnosis of Glut1-DS is established with a reduced cerebrospinal fluid (CSF) glucose concentration (hypoglycorrhachia) in the absence of hypoglycemia and low ratio of CSF glucose concentration to blood glucose concentration.

Molecular Genetics:

SLC2A1 (solute carrier family 2, facilitated glucose transporter member 1) is the only gene currently known to be associated with Glut1-DS. Sequence analysis of the SLC2A1 gene will detect mutations in approximately 90% of affected individuals. Whole gene deletions have been reported in 10% of patients. Mutations are most often de novo although a few affected parents have been identified. Parents can be mildly affected.

Test Methods:

We offer DNA sequence analysis and deletion/duplication testing of the entire coding region. These tests can be ordered together as a panel or separately. PCR amplification and sequencing is performed on all coding exons including splice junctions. The patient’s gene sequence is then compared to a reference sequence. Sequence variants are classified as mutations, variants of unknown significance or benign variants unrelated to disease. Variants of unknown significance may warrant further studies in the patient and other family members. Large deletions and duplications in the SLC2A1 gene will be detected using multiplex ligation-dependent probe amplification assay (MLPA).

Detection Rate:

Sequence analysis of the SLC2A1 gene will detect mutations in 90% of affected individuals, while MLPA will detect deletions/duplications in 10% of affected individuals. The analytical sensitivity of this assay is 99%.

Related Tests:

Known mutation analysis is available to family members for mutations previously identified by sequence analysis. Prenatal testing is available for families in whom a mutation has been previously identified. Please contact the laboratory director to discuss appropriate testing prior to collecting a prenatal specimen.


Test results with interpretation will be mailed and/or faxed to the referring physician or laboratory following completion of the test. Additional reports will be provided as requested.


The clinical utility of such testing is to support a clinical diagnosis of the disease, facilitate genetic counseling, assess the risk to other first degree relatives and to facilitate testing of at - risk family members.

Search Lab Test Directory

Search by disease or test name

View a full list of all lab tests

Contact Us

Ask for more information about our laboratory services.