SOPHiA DDM™ for
Pediatric Diseases

Fast and accurate analytics for pediatric genetic testing

pink dots icon

Our optimized sample-to-report workflows bring clarity to variants associated with rare and inherited pediatric diseases

Enhance your pediatric genetic testing research with advanced analytics and dedicated features
Quickly and accurately discover variants associated with pediatric diseases in a single sample-to-report workflow with the SOPHiA DDM™ Platform complemented by Alamut™ Visual Plus.

Comprehensive variant filtering

Pediatric genetic testing can detect thousands of variants for interpretation. To facilitate the prioritization of variants, benefit from time-saving SOPHiA DDM™ features such as Familial Variant Analysis for the determination of inheritance mode, Virtual Panels, Cascading Filters, and guideline-driven classification.

Accurate CNV detection

The SOPHiA DDM™ Platform supports the accurate detection of Copy Number Variations (CNVs) at exon-level resolution alongside Single Nucleotide Variants (SNVs) and Indels in a single experiment, facilitating a fast and cost-effective workflow for pediatric genetic testing.

Mitochondrial DNA detection

In a single workflow, the SOPHiA DDM™ Platform analyzes variants in mitochondrial DNA alongside SNVs, Indels, and CNVs in nuclear DNA. Sophisticated algorithms address the unique challenges associated with the mitochondrial genome such as the variable amount of mitochondrial DNA and heteroplasmy, to identify disease-associated variants from pediatric genetic testing.

pink dots icon

Applications for every workflow

Our Pediatric Disease Applications leverage the analytical capabilities of the SOPHiA DDM™ Platform for accurate and streamlined variant detection and assessment from pediatric genetic testing.

Exome Applications

Our broad range of comprehensive exome applications allow a deep exploration of clinical and whole exomes, including the mitochondrial genome. Virtual panels in the SOPHiA DDM™ Platform limit interpretation to a subset of genes for quicker initial screening of variants.

A universal health data analytics platform for a decentralized approach to healthcare

Nephropathies Solution

Quickly and confidently characterize and research childhood nephropathies with the SOPHiA DDM™ Nephropathies Solution, expertly designed in collaboration with Bambino Gesù Children’s Hospital in Italy. High-affinity probe design ensures high on-target rate and coverage uniformity, and SOPHiA DDM™ provides high confidence calling of SNVs, Indels, and CNVs, including differentiation of gene and pseudogene variants in PKD1.

A universal health data analytics platform for a decentralized approach to healthcare

Analytical pipelines for CFTR carrier screening

Maximize your cystic fibrosis research with SOPHiA DDM™ secondary and tertiary analytics that support Devyser® CFTR Solution, TruSeq® CFTR (first and second level screening), or AmpliSeq® CFTR Solution. SOPHiA DDM™ provides high confidence calling of SNVs, Indels, and CNVs, including polythymidine variants.

A universal health data analytics platform for a decentralized approach to healthcare

Community Panels

Accelerate your analysis of variants associated with pediatric diseases with panels pre-designed, developed, and tested by genomic experts. Our targeted, capture-based NGS Community Panels minimize set-up challenges with the flexibility to add or remove genes to meet your unique requirements.

 

A universal health data analytics platform for a decentralized approach to healthcare

Custom Pipelines

Design and adopt an analytical solution or capture-based target enrichment kit that accurately analyzes genes relevant to your laboratory. Benefit from full consulting and set-up assistance for a fast and worry-free transition to routine variant analysis.

A universal health data analytics platform for a decentralized approach to healthcare

Research these Rare and Inherited Pediatric Diseases with our genetic testing Applications

Autoinflammatory Diseases

Acne inversa, Aicardi-Goutieres syndrome, Alzheimer’s disease, auto-immune diseases, auto-inflammation syndromes, autoinflammatory syndrome, Blau syndrome, Chilblain lupus, Crohn’s disease, ectodermal dysplasia with immunodeficiency-1, familial Mediterranean fever, immunodeficiencies, inflammatory bowel disease, juvenile arthritis, familial fever syndromes, Kosaki overgrowth syndrome, lymphoproliferative syndrome, periodic fever

Cystic Fibrosis

Dermatological Diseases

Angioedema, atherosclerosis, epidermolysis bullosa, ectodermal dysplasia, palmoplantar keratodermas, polyposis syndromes (cancerous and non-cancerous)

Developmental Disorders

Congenital syndromes, growth defects, inherited retinal dystrophy, short stature syndromes
Imprinting disorders: Bloom syndrome, intra-uterine growth retardation, Meier-Gorlin syndrome, osteogenesis defects, retinal dystrophy, Russell-Silver syndrome, short stature syndrome
Short stature disorders: Coffin-Siris syndrome, Cornelia de Lange syndrome, epiphyseal dysplasia, hypogonadism, microcephaly, microphthalmia, Noonan syndrome, pituitary hormone deficiency, Seckel syndrome, Russell-Silver syndrome

Hematologic Disorders

Metabolic Disorders

Apolipoprotein C-II deficiency, congenital adrenal hyperplasia, corticosterone methyloxidase deficiency, hypercholesterolemia, hyperlipidemia, hypertriglyceridemia

Nephropathies

Alport syndrome, Bartter syndromes, congenital anomalies of the kidney and urinary tract (CAKUT), nephrotic syndromes, polycystic kidney disorders, tubulopathies

Onco-endocrine disorders

RASopathy syndromes

Cohen syndrome, neurofibromatosis, congenital pachyonychia, Watson syndrome

pink dots icon

Resources

pink dots icon

Want to know more?
Get in touch with us.

Our client services team is on hand to help.
';