Whole Exome Panel

Genetic

Report in 840Hrs

At Home

No Fasting Required

Details

NGS of all coding regions.

₹35,520₹50,743

30% OFF

Whole Exome Panel - Comprehensive Medical Test Guide

Why is it done?
- Detects mutations and variations in genes that code for proteins (exons), representing approximately 1-2% of the human genome responsible for most protein-coding sequences
- Identifies inherited genetic disorders and predisposition to genetic diseases in patients with clinical symptoms suggesting monogenic or polygenic conditions
- Investigates undiagnosed genetic conditions when traditional testing has been unrevealing or inconclusive
- Evaluates patients with developmental delays, intellectual disabilities, autism spectrum disorders, or multiple congenital anomalies
- Assesses risk for hereditary cancer syndromes, cardiovascular diseases, and metabolic disorders
- Determines carrier status for recessive genetic conditions in family planning scenarios
- Performed when patients present with clinically significant symptoms or when family history suggests hereditary disease
Normal Range
- Normal Result: No pathogenic or likely pathogenic variants identified in clinically significant genes; variants present are common polymorphisms without disease association
- Variant of Uncertain Significance (VUS): Genetic changes detected that have unclear clinical implications; requires additional investigation, functional studies, or segregation analysis
- Pathogenic Variant: Confirmed disease-causing mutation associated with specific genetic disorder; indicates affected status or carrier state
- Likely Pathogenic Variant: Strong evidence of pathogenicity but not fully confirmed; clinically interpreted as disease-causing with high probability
- Benign Variant: Common population variants without clinical significance; observed in healthy individuals
- Units of Measurement: Reported as base pair (bp) positions on chromosomes; variants classified by type (frameshift, missense, nonsense, splice site, copy number variations)
- Coverage Information: Typically reported with sequencing depth (coverage) demonstrating adequate reads for reliable variant detection; minimum coverage usually 20x or higher per base pair
Interpretation
- Homozygous Pathogenic Variant: Two copies of disease-causing mutation present; indicates affected status for autosomal recessive conditions; high penetrance
- Heterozygous Pathogenic Variant: One copy of mutation present; indicates carrier status for autosomal recessive diseases; affected status for autosomal dominant conditions
- Compound Heterozygous Variants: Two different pathogenic variants on different alleles; indicates affected status for autosomal recessive condition
- X-Linked Hemizygous Variants: Single copy mutation on X chromosome in males; indicates affected status; in females, heterozygous variants may show variable expression
- Mitochondrial Mutations: Heteroplasmy (mixture of mutant and normal mtDNA) and homoplasmy levels affect phenotype severity; maternal inheritance pattern
- Copy Number Variations (CNVs): Deletions or duplications of DNA segments; reported in number of base pairs; size and gene content determine clinical significance
- Factors Affecting Interpretation: Allele frequency in population databases, evolutionary conservation, functional predictions, segregation with disease in family, ethnic background, age of onset, clinical phenotype specificity
- Incidental Findings: Clinically significant variants unrelated to indication may be identified in genes related to cancer predisposition, cardiac conditions, or pharmacogenomics; disclosure dependent on institutional and patient preferences
- De Novo Variants: Mutations arising in patient but absent in parents; significant in developmental disorders and autosomal dominant conditions; requires confirmation through parental testing
Associated Organs and Systems
- Central Nervous System: Epilepsy, intellectual disability, developmental delay, autism spectrum disorder, neurodegeneration, Parkinson's disease, Alzheimer's disease
- Cardiovascular System: Familial hypercholesterolemia, arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, dilated cardiomyopathy, long QT syndrome, Brugada syndrome, sudden cardiac death predisposition
- Hematologic System: Hemophilia, thalassemia, sickle cell disease, hereditary spherocytosis, bleeding disorders, thrombophilia predisposition
- Endocrine System: Maturity-onset diabetes of the young (MODY), familial hyperthyroidism, growth hormone deficiency, multiple endocrine neoplasia syndromes
- Metabolic Disorders: Lysosomal storage diseases, mitochondrial disorders, organic acidemias, urea cycle disorders, fatty acid oxidation defects
- Skeletal System: Osteogenesis imperfecta, achondroplasia, skeletal dysplasias, osteoporosis predisposition, Ehlers-Danlos syndrome variants
- Cancer Predisposition: BRCA1/BRCA2 variants for breast/ovarian cancer, Lynch syndrome, familial adenomatous polyposis, Li-Fraumeni syndrome, hereditary paraganglioma-pheochromocytoma
- Immune System: Primary immunodeficiencies, autoimmune conditions predisposition, complement deficiencies
- Ophthalmologic: Retinitis pigmentosa, age-related macular degeneration, cataracts, color blindness, Leber congenital amaurosis
- Audiologic: Non-syndromic hearing loss, syndromic hearing loss with extra-auricular features
Follow-up Tests
- Parental Testing: Performed to determine if variants are de novo or inherited; helps establish inheritance pattern and recurrence risk; recommended for all patients with identified pathogenic variants
- Segregation Analysis: Testing extended family members to determine if variants segregate with disease phenotype; clarifies pathogenicity of VUS
- RNA Sequencing or Expression Analysis: Performed when splice site variants or regulatory mutations identified; determines functional impact on mRNA processing
- Functional Studies: Cell or animal model studies for VUS to assess pathogenic potential; in vitro protein expression and localization studies
- Targeted Gene Sequencing: Higher depth sequencing of specific genes with identified VUS; deep coverage for heteroplasmy detection in mitochondrial disorders
- Orthogonal CNV Validation: Array CGH, qPCR, or FISH to confirm copy number variations for size accuracy and disease causality assessment
- Gene-Specific Testing: Sanger sequencing confirmation of identified variants, particularly for clinical reporting and medical decision-making
- Biochemical and Clinical Testing: Enzyme levels, metabolite profiles, urine organic acids, plasma amino acids for metabolic disorders; imaging studies for structural abnormalities
- Comprehensive Geriatric and Specialty Assessments: Cardiology evaluation for cardiac variants, oncology consultation for cancer predisposition, neurology for neurological conditions
- Genetic Counseling: Pre-test and post-test counseling essential for all patients; discusses inheritance patterns, recurrence risks, management options, and family implications
- Annual or Periodic Review: Reassessment of VUS as new evidence emerges; updated variant interpretation based on published literature and population data; clinical re-evaluation for evolving phenotypes
Fasting Required?
- Fasting Required: NO
- Sample Collection: Blood sample via venipuncture (5-10 mL) collected in EDTA tube (purple top) or appropriate tube per laboratory protocol; can be collected at any time of day without regard to meals
- Alternative Sample Types: Buccal swabs, saliva samples, or cultured cells may be used depending on clinical circumstances and laboratory capabilities
- Pre-Test Instructions: No specific dietary restrictions; patient should maintain normal hydration; medications do not need to be held; inform healthcare provider of current medications for reference
- Sample Preparation: Samples should be properly labeled with patient identifiers; stored at room temperature for short periods or refrigerated if delayed processing; transport to laboratory per standard protocols
- Medications: No medications need to be discontinued prior to genetic testing; current medications do not interfere with DNA analysis
- Informed Consent: Comprehensive informed consent required prior to testing; document patient understanding of test scope, limitations, potential incidental findings, and privacy considerations
- Genetic Counseling Availability: Genetic counselor or healthcare provider should be available for pre-test discussion; essential for post-test result interpretation and family implications
- Turnaround Time: Typically 2-8 weeks depending on laboratory volume and analysis complexity; priority or expedited processing available at some facilities for additional cost

How our test process works!