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.
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).
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.
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.
TaGSCAN is now available as a routine test. It can be ordered in
Cerner as: "Genome Targeted Gene Seq/Custom Analysis" or "Genome
Order form (pdf)
The required sample is 3 – 5 ml of peripheral blood in a lavendar (EDTA) tube.
Average turnaround time is six – eight weeks.
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.