Genetic Diagnostic Panel
A comprehensive germline WES-based diagnostic test for investigating suspected hereditary diseases, rare disorders, and complex multisystem conditions.
Contact usDescription
iLab Medical Genetic Diagnostic Panel is a broad-spectrum germline diagnostic program utilizing Next-Generation Sequencing and Whole Exome Sequencing to investigate suspected hereditary diseases across multiple organ systems.
Whole Exome Sequencing enables high-depth sequencing of the protein-coding regions across approximately 20,000 genes, where most known disease-causing variants are located. This approach allows simultaneous evaluation of hundreds to thousands of clinically relevant genes in a single assay.
The panel is designed for patients with unexplained clinical phenotypes, suspected genetic syndromes, rare diseases, complex multisystem disorders, or atypical disease presentations.
Compared with sequential single-gene testing, WES-based diagnostics improve efficiency and diagnostic yield in genetically heterogeneous disorders.
FOR LABORATORIES
Rare disease investigation, suspected genetic syndromes, multisystem disorders, differential diagnosis, treatment decision support, prognostic evaluation, family counseling, and disease-focused panel filtering across multiple specialties.
Benefits
Process
Sample collection is performed using peripheral blood as the preferred specimen for germline Whole Exome Sequencing. Purified genomic DNA may also be accepted as an alternative sample type when required quality standards are met.
After specimen receipt, DNA is processed for sequencing and bioinformatic analysis. Variants are filtered and interpreted based on phenotype, clinical relevance, and established classification guidelines to support comprehensive germline diagnostic assessment.
The final report supports molecular diagnosis, clarification of overlapping phenotypes, treatment planning, prognostic evaluation, and recurrence risk assessment for patients and families.
FOR LABORATORIES
Specimen Requirements
Preferred Sample
- 2-4 mL peripheral blood
- Collected in EDTA (lavender-top) tube
- Provides high-quality germline DNA for Whole Exome Sequencing
Alternative Sample
- Purified genomic DNA with minimum input of 1 µg
- Recommended concentration: 100-250 ng/µL
- Recommended A260/A280 ratio: 1.8-2.0
- Intact high-molecular-weight DNA required
Clinical Applications
- Rare disease investigation
- Confirmation of suspected molecular diagnosis
- Differential diagnosis of overlapping phenotypes
- Evaluation of syndromic presentations
- Treatment decision support
- Prognostic evaluation
- Family counseling and recurrence risk estimation
Available Panel Categories
- Hereditary tumor syndromes
- Hereditary skin diseases
- Hereditary skeletal disorders
- Hereditary RASopathies
- Hereditary neuromuscular diseases
- Hereditary neurodegenerative diseases
- Hereditary mitochondrial diseases
- Organ-specific genetic panels
- Brain development and epilepsy disorders
- Blood and immune disorders
Turnaround Time (TAT)
- 6-9 weeks from receipt of acceptable specimen and complete clinical documentation
Clinical Value
- Comprehensive molecular diagnosis
- Reduced diagnostic odyssey
- Precision treatment guidance
- Prognostic clarification
- Informed reproductive counseling
- Early intervention strategies
How it works
After sample collection, DNA is extracted and analyzed using Whole Exome Sequencing on a Next-Generation Sequencing platform. The assay provides broad coverage of coding regions and exon-intron boundaries, enabling evaluation of clinically relevant genes associated with hereditary disease.
The analysis includes detection of single nucleotide variants, small insertions and deletions, and selected copy number variations where applicable. Interpretation is supported by a clinical-grade bioinformatics pipeline, phenotype-driven variant filtering, curated clinical databases, and ACMG/AMP classification standards.
The final report provides clinically relevant germline findings to support molecular diagnosis, further clinical workup, treatment planning, prognosis assessment, and family counseling. Optional trio analysis may be used to improve diagnostic yield when indicated.
FOR LABORATORIES
Methodology
- Whole Exome Sequencing using a Next-Generation Sequencing platform
- High coverage of coding regions and exon-intron boundaries
- Clinical-grade bioinformatics pipeline
- Phenotype-driven variant filtering and curated clinical interpretation
- Optional trio analysis for improved diagnostic yield
Variant Detection
- Single Nucleotide Variants (SNVs)
- Small insertions and deletions (indels)
- Selected Copy Number Variations (CNVs)
- Exon-level deletions and duplications where applicable
Interpretation Standards
- Variant classification according to ACMG/AMP guidelines
- Use of curated clinical databases
- Phenotype-driven variant filtering
- Optional trio analysis with proband and parents where appropriate
Available Genetic Panels
Hereditary Tumor Syndromes
- Complete Tumor Syndromes Panel
- Colon Cancer
- Polyposis Coli
- HNPCC / Lynch Syndrome
- Breast and Ovarian Cancer
- Breast and Ovarian Cancer – Extended
- Prostate Cancer
- Pancreatic Cancer
- Renal Cell Carcinoma
- Pheochromocytoma and Paraganglioma
- Familial Melanoma
- Xeroderma Pigmentosum
- Fanconi Anemia
- Other Familial Tumor Syndromes
Hereditary Skin Diseases
- Complete Skin Disease Panel
- Albinism
- Hermansky-Pudlak Syndrome
- Genetic Pigmentation Disorders
- Ichthyoses and Cornification Disorders
- Epidermolysis and Blistering Disorders
- Connective Tissue Disorders
- Ectodermal Dysplasia
- Dyskeratosis Congenita
- RAS/MAPK Pathway Disorders
- Progeria Syndromes
- Vascular and Lymphatic Disorders
Additional Panel Areas
- Hereditary Skeletal Disorders
- Hereditary RASopathies
- Hereditary Neuromuscular Diseases
- Hereditary Neurodegenerative Diseases
- Hereditary Mitochondrial Diseases
- Organ-Specific Genetic Panels
- Brain Development and Epilepsy Disorders
- Blood and Immune Disorders