Unlock the Power of Your Genes: Advanced Genomic Testing

Discover personalized insights into your health and genetic makeup

The PANDA Core for Genomics and Microbiome Research at the University of Arizona's Steele Children’s Research Center offers Next Generation Sequencing (NGS) testing including Whole Genome Sequencing (WGS), Whole Exome Sequencing (WES), and Gene Panels:  

Whole Genome Sequencing (WGS):

  • Comprehensive Analysis: Explore the entire genetic code, providing the most in-depth understanding of your genetic makeup.
  • Uncover Hidden Risks: Identify potential genetic predispositions to diseases and conditions.
  • Personalized Medicine: Guide tailored treatment plans based on your unique genetic profile.

Whole Exome Sequencing (WES):

  • Targeted Approach: Focus on the protein-coding regions of your genome, providing valuable insights into disease-causing variants.
  • Efficient Testing: A cost-effective option for identifying genetic mutations associated with specific conditions.
  • Accelerated Diagnosis: Aid in the diagnosis of rare or undiagnosed genetic disorders.

Gene Panels:

  • Targeted Panels: Select specific genes or gene regions relevant to particular diseases or conditions.
  • Efficient Screening: Quickly and efficiently identify genetic variants associated with specific health concerns
  • Early Detection: Facilitate early diagnosis and intervention for inherited diseases.
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Offered tests:

Proband - The proband is a person whose entire genome is sequenced to search for genetic variants associated with a particular disease, disorder, or trait.

Duo - In a duo testing, genetic analysis is performed on two genetically related individuals. This involves a proband and a parent. In duo testing, both individuals' genomes are sequenced to compare genetic variants and identify potential disease-causing mutations or genetic factors contributing to a trait or condition.

Trio - A trio testing involves three related individuals, typically a proband and both biological parents. In trio testing, the genomes or exomes of all three individuals are sequenced. This approach allows for the analysis of genetic inheritance patterns, identifying de novo mutations (mutations present in the child but not in either parent), as well as assessing genetic contributions from both parents to the child's phenotype.

 

Whole Genome Sequencing Tests:

  1. WGS Proband (<4 weeks), and expedited WGS Proband (7-14 days, additional fees apply)
  2. WGS Duo (<4 weeks), and  expedited WGS Duo (7-14 days, additional fees apply)
  3. WGS Trio (<4 weeks), and  expedited WGS Trio (7-14 days, additional fees apply)

  4. WGS re-analysis

     

Whole Exome Sequencing Tests (4-6 weeks):

  1. WES Proband
  2. WES Duo
  3. WES Trio
  4. WES re-analysis

 

Gene Panel Tests (4-6 weeks, please contact us for the exact list of genes for each panel):

1    Neurodevelopmental Disorders Panel - 238 genes
2    Epilepsy Panel - 804 genes
3    Heritable Disorders of Connective Tissue Panel  - 60 genes
4    Comprehensive Arrhythmia and Cardiomyopathy Gene Panel  - 106 genes
5    Comprehensive Common Cancer Panel  - 50 genes
6    Hypogonadotropic Hypogonadism Panel  - 36 genes
7    Familial Hypercholesterolemia (FH) Panel  - 4 genes
8    Familial Dyslipidemia Panel - 28 genes
9    Primary Immunodeficiency Panel  - 463 genes
10    Early Onset Monogenic Inflammatory Bowel Disease (IBD) Gene Panel   - 107 genes
11    Comprehensive Nephrology Gene Panel  - 464 genes
12    Disorders of Sex Development  - 203 genes
13    Comprehensive Monogenic Obesity Panel  - 68 genes
14    Hereditary Hyperparathyroidism Panel - 9 genes
15    Hypoparathyroidism Panel  - 19 genes
16    Neonatal Respiratory Distress Panel  - 112 genes
17    Adult Movement Disorders Panel  - 473 genes
 

 

SUBMIT A CLINICAL ORDER

 

WGS Workflow

 

1

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Sample Collection and DNA Extraction: A sample is collected and DNA is extracted from a biological sample, such as saliva (buccal swab OCD-100) or whole blood (coming soon) obtained from the individual undergoing testing

2

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Library Preparation: Using PCR-free technology a sequencing library is prepared from patient's genomic DNA

3

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Sequencing and Base Calling: Samples are sequenced on Illumina NovaSeq6000 sequencing platform using 2x150bp paired-end reads

4

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Alignment, Variant Calling and Annotation: Alignment and detection of variants were performed with DRAGEN bioinformatics pipeline version 4.2, with GRCh38 as the human genome reference. Based on validation studies, the pipeline showed 98.2% sensitivity and 100% precision in areas with coverage greater than 30x and high mapping quality. Variants were annotated with the public and internal bioinformatics/genetics resources

5

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Filtration and Prioritization: All variants unlikely to be relevant to the phenotype or disease are removed and the remaining variants are prioritized based on their likelihood of being associated with the phenotype or disease under investigation

6

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Curation and Reporting: Selected variants are organized and interpreted by trained geneticists and presented to a patient, patient's family and ordering providers as a useful and understandable clinical report