Pediatric Genomic Medicine TaGSCAN Diagnostic Test
Pediatric Genomic Medicine TaGSCAN Diagnostic Test

The Targeted Gene Sequencing and Custom Analysis (TaGSCAN) test is a novel, targeted screening panel covering the coding region of 514 genes known to cause severe diseases with childhood onset. TaGSCAN was developed by the Center for Pediatric Genomic Medicine at Children's Mercy Hospitals and Clinics. 

Genes Targeted

The test is highly sensitive, detecting approximately 95 percent of known genetic mutations in more than 750 diseases. Most of the genes on the panel are autosomal recessive, with few exceptions. The panel is rich in genes for neurodevelopmental, metabolic, nuclear mitochondrial, intellectual disability and immunodeficiency conditions. Please feel free to consult with us whether the test would be helpful for your patient.

View a comprehensive list of genes and diseases covered by the test: genes list (pdf).

Customized Analysis

Our software program, "SSAGA" (for Symptom and Sign Assisted Genome Analysis) allows customized genome analysis based on each individual patients' symptoms. Symptoms are entered into SSAGA at the time the order is placed; this can be done by the ordering physician, genetic counselor, or nurse practitioner. 

SSAGA will automatically select which genes on the panel will be analyzed. Genes not relevant to the patient's symptoms are not analyzed. This reduces the number of incidental findings such as carrier status and variants of unknown significance.

Technical Limitations

Mutations not detected by this test include large (over 20bp) deletions or duplications, methylation disorders, mutations in genes with pseudogenes or other highly homologous sequences and triplet repeats. It currently does not include the mitochondrial genome.

Ordering

TaGSCAN is now available as a routine test. It can be ordered in Cerner as: "Genome Targeted Gene Seq/Custom Analysis" or "Genome TAGSCAN."
Order form (pdf)

Sample Requirements

The required sample is 3 – 5 ml of peripheral blood in a lavendar (EDTA) tube. 

Turnaround Time

Average turnaround time is six – eight weeks. 

Confirmatory Testing

Diagnostic genotypes are confirmed by Sanger sequencing. This does not require an additional sample, and there is no additional charge; however it may delay the final report.

Billing and Reimbursement

The cost is comparable to a single gene test done by Sanger sequencing and is especially cost effective when considering a genetically heterogeneous disorder for which two or more genes are on the panel. Like all molecular genetic testing, insurance coverage may be variable. CPT code: 81407

TaGSCAN is performed through the Department of Pathology and under the Department's CLIA/CAP license.

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