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 and is performed through the Department of
Pathology and under the Department's CLIA/CAP license.
Most of the genes on the panel are autosomal recessive, with few exceptions. The panel is rich in genes for metabolic, nuclear mitochondrial, intellectual disability and immunodeficiency conditions. Please feel free to consult with us whether the test would be helpful for your patient. Note: There is incomplete coverage for some genes.
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 customization of the analysis based on the
patient's symptoms. Symptoms will be entered into SSAGA at the time
the order is placed; this can be done by the ordering physician,
genetic counselor, or laboratory director. 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
The required sample is 3 – 5 ml of peripheral blood in a lavendar (EDTA) tube.
Average turnaround time is six – eight weeks.
Diagnostic genotypes will be confirmed by Sanger sequencing at
the Laboratory Director's discretion. 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
Like all molecular genetic testing, insurance coverage may be
variable. CPT code: 81407