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Institute of Metabolic Disease at Baylor Research Institute
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DNA Analysis for Free Sialic Acid Storage Disorder (SASD) Mutations by SLC17A5 Gene Sequencing
Free Sialic Acid Storage Disorder includes: Salla Disease, Intermediate Severe Salla Disease, and Infantile
Free Sialic Acid Storage Disease (ISSD) are neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. Free sialic acid storage disorder results from defective free sialic acid transport out of lysosomes as a consequence of mutations in the SLC17A5 gene encoding the lysosomal transport protein sialin. Genetic testing for SASD is performed by screening for mutations via direct DNA sequencing.
For unknown SASD mutations, all coding region of the SLC17A5 gene are amplified from patient's genomic DNA by using specific intronic primers. The corresponding PCR product templates are purified. Bi-directional sequencing of PCR products is performed on an ABI Prism 3100 DNA Sequencer (PE Applied Biosystems).
For known SASD mutations, only the appropriate exons will be sequenced.
This method can also be utilized for common mutation analysis for Salla Disease (115C>T).
Download Test Requisition
Department: Molecular Diagnostics
Methodology: Polymerase Chain Reaction (PCR) to amplify all of exons of gene and direct sequencing by Applied Biosystems sequencer 3100
Sample:
• Whole Blood (preferred) – 1 mL of whole blood collected in an EDTA (lavender top) or an ACD (yellow top) tube. For the ACD tube, solution A is preferred. Minimum sample volume – 0.5 mL
• Dried blood spot card – 3 completely filled spots
• Fibroblasts – 2 confluent T-25 flasks
Special Notes:
Contact the Molecular Diagnostics Laboratory Director prior to submitting a sample.
FOR KNOWN MUTATION ANALYSIS (such as carrier testing) - indicate the mutation(s) on the test requisition; additionally, submit supporting documentation of the characterization of the mutation.
FOR SALLA COMMON MUTATION ANALYSIS - select test on the test requisition
PRENATAL DIAGNOSIS: Prenatal Diagnosis for known SASD mutations can be performed on a RESEARCH basis - contact the Molecular Diagnostics Laboratory Director for more information
Shipping and Handling:
Ship all sample types at room temperature using a guaranteed overnight courier.
CPT code: 83890, 83891 x11, 83892, 83894 x11, 83898 x11, 83904 x11, 83909 x11, 83912
Cost: Sequencing: $2500.00
Individual SASD Mutation(s) and Salla Common Mutation Analysis: $275.00 per mutation
Turnaround time: 4-8 weeks from receipt of sample.
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