jamunjar-logo
whatsapp
cartmembermenu
Search for
"test & packages"
"physiotherapy"
"heart"
"lungs"
"diabetes"
"kidney"
"liver"
"cancer"
"thyroid"
"bones"
"fever"
"vitamin"
"iron"
"HTN"

Chromosomal Array CGH + SNP POC

Genetic
image

Report in 232Hrs

image

At Home

nofastingrequire

No Fasting Required

Details

Higher resolution chromosomal test with SNP analysis.

₹25,160₹35,943

30% OFF

Chromosomal Array CGH + SNP POC - Comprehensive Medical Test Guide

  • Section 1: Why is it done?
    • Test Purpose: Detects chromosomal copy number variations (CNVs) and genomic imbalances using Comparative Genomic Hybridization (CGH) combined with Single Nucleotide Polymorphism (SNP) analysis for Point-of-Care (POC) testing
    • Primary Indications: • Developmental delay and intellectual disability evaluation • Autism spectrum disorder (ASD) screening • Congenital anomalies and birth defects assessment • Recurrent pregnancy loss investigation • Multiple congenital abnormalities in newborns • Neurodevelopmental disorder diagnosis • Cancer predisposition screening • Infertility and reproductive counseling
    • Typical Timing: • Prenatal: During pregnancy when fetal anomalies detected on ultrasound • Neonatal: Within first weeks of life when congenital abnormalities present • Pediatric: During early childhood developmental assessment • Adult: When genetic etiology of developmental delay suspected • Point-of-Care: Rapid results available within 24-48 hours in urgent clinical settings
  • Section 2: Normal Range
    • Normal Result Interpretation: No significant copy number variations detected. Genomic profile consistent with normal diploid state (two copies of each chromosome). No pathogenic deletions or duplications identified.
    • Reference Values: • Euploid state: 46 chromosomes with expected copy number = 2 for autosomes • Regions of interest (ROI): Copy number = 2 indicates diploid, normal state • CNV detection threshold: Typically ≥50-100 kb for reliable detection • SNP call rate: >98% indicates high-quality data • Log2 ratio: Expected value of 0 for normal copy number regions
    • Variants of Uncertain Significance (VUS): Benign polymorphisms or CNVs without clear clinical significance may be reported separately from pathogenic findings, requiring genetic counseling for interpretation
    • Quality Metrics: • Median absolute deviation (MAD) <0.2 indicates acceptable noise levels • GC-bias normalized: Ensures accurate copy number calling • Whole genome coverage: >99% genome coverage at target resolution
  • Section 3: Interpretation
    • Pathogenic Deletions (Loss of genetic material): • Copy number = 1 or <1 indicates deletion of one chromosome copy • Log2 ratio approximately -1 for single-copy loss • Associated with gene dosage imbalance and potential haploinsufficiency • Examples: 1p36 deletion, Wolf-Hirschhorn syndrome (4p deletion), Cri-du-Chat syndrome (5p deletion) • Severity depends on size and genes involved
    • Pathogenic Duplications (Gain of genetic material): • Copy number = 3 or >3 indicates duplication with extra chromosome copy • Log2 ratio approximately +0.5 for single-copy gain • Results in gene dosage imbalance with triplosomy of affected region • Associated with developmental delay, intellectual disability, and behavioral problems • Examples: Charcot-Marie-Tooth disease (CMT1A duplication), Potocki-Lupski syndrome (dup17p11.2)
    • Complex Chromosomal Rearrangements: • Multiple gains and losses detected on same or different chromosomes • May indicate segmental duplications, inversions, or translocations • SNP analysis can detect loss of heterozygosity (LOH) regions • Helps identify uniparental disomy, parental imprinting disorders • Important for cancer cytogenetics and tumor profiling
    • Loss of Heterozygosity (LOH) Detection: • SNP component identifies contiguous homozygous regions • Indicates uniparental disomy, consanguinity, or imprinting disorders • Important in Prader-Willi syndrome (15q LOH paternal origin) • Angelman syndrome detection (15q LOH maternal origin) • Tumor suppressor gene inactivation in cancers
    • Factors Affecting Interpretation: • Sample quality and DNA integrity • Degree of mosaicism (percentage of abnormal cells) • Mosaic variants may show intermediate log2 ratios (0.2-0.8) • Parental origin of CNVs (maternal vs paternal) • Previously identified benign polymorphisms in population databases • Gene content and function within CNV regions • Penetrance and expressivity of genetic variant • Known pathogenicity from DECIPHER, gnomAD, or ClinVar databases
    • Clinical Significance Patterns: • Large CNVs (>1 Mb) often pathogenic; small CNVs require careful evaluation • Exonic versus intronic location affects functional impact • Multiple genes involved increases likelihood of clinical phenotype • De novo CNVs more likely pathogenic than inherited variants • Recurrent CNVs at specific loci associated with known syndromes • CNVs affecting dosage-sensitive genes (PTEN, SHANK3, NRXN1) typically pathogenic
  • Section 4: Associated Organs
    • Primary Organ Systems Affected: • Central Nervous System: Brain development, cognitive function, neurological processing • Developmental System: Overall growth and developmental milestones • Cardiovascular System: Heart development and congenital cardiac defects • Reproductive System: Fertility, gonadal development, sexual differentiation
    • Developmental and Neurological Conditions: • Intellectual Disability/Developmental Delay: CNVs in genes affecting brain development (PTEN, SHANK3, NRXN1) • Autism Spectrum Disorder: Associated with 16p11.2, 22q11.2, 7q11.23 deletions • Schizophrenia and Psychiatric Disorders: 22q11.2, 15q13.3, 1q21.1 CNVs • Seizure Disorders: 1p36 deletion, 5p deletion (Cri-du-Chat), other CNVs in epilepsy genes • Attention Deficit Hyperactivity Disorder (ADHD): Various chromosomal imbalances • Sleep Disorders: CNVs affecting neurotransmitter pathways
    • Congenital Anomalies and Birth Defects: • Facial Clefts: 22q11.2 deletion syndrome (DiGeorge syndrome) • Cardiac Defects: Tetralogy of Fallot, VSD, ASD associated with microdeletions • Renal Anomalies: 1p36 deletion, other chromosomal imbalances • Limb Malformations: Various deletions and duplications • Orofacial Clefts: Associated with multiple chromosomal regions • Skeletal Dysplasias: CNVs affecting bone development genes
    • Growth and Metabolic Disorders: • Growth Hormone Deficiency: Associated with genetic imbalances • Obesity: 16p11.2 deletion strongly associated with childhood obesity • Prader-Willi Syndrome: 15q11-q13 deletion/imprinting disorder • Angelman Syndrome: 15q11-q13 maternal deletion or imprinting defect • Hyperlipidemia and Metabolic Syndrome: Various chromosomal associations
    • Cancer and Tumor-Associated CNVs: • Tumor Suppressor Loss: TP53 deletion, PTEN deletion in cancer predisposition • Oncogene Amplification: MYC duplication in lymphomas, HER2 amplification in breast cancer • Hereditary Cancer Syndromes: BRCA1/BRCA2 region CNVs • Li-Fraumeni Syndrome: TP53 microdeletions • PTEN-related Hamartoma Tumor Syndrome (PHTS): PTEN deletions
    • Immunological and Infectious Susceptibility: • DiGeorge Syndrome (22q11.2): Thymic hypoplasia, T-cell deficiency • Immune Dysregulation: CNVs affecting immune regulatory genes • Recurrent Infections: Secondary to immunological defects from CNVs • Autoimmune Conditions: Genetic predisposition through chromosomal imbalances
    • Reproductive and Fertility Issues: • Recurrent Miscarriage: Unbalanced chromosomal translocations, CNVs • Male Infertility: Y chromosome microdeletions, autosomal CNVs • Female Infertility: Ovarian function affected by chromosomal imbalances • Sex Determination Disorders: CNVs affecting sex chromosome regions or autosomal loci regulating sexual differentiation
    • Potential Complications from Abnormal Results: • Severe Developmental Impairment: Profound intellectual disability, seizures • Multi-system Organ Involvement: Cardiac, renal, hepatic involvement • Psychiatric Manifestations: Behavioral problems, psychosis in certain syndromes • Malignancy Risk: Increased cancer predisposition requiring surveillance • Premature Mortality: In severe CNV syndromes • Reduced Life Expectancy: Depends on specific chromosomal imbalance • Need for Ongoing Medical Management: Multidisciplinary care requirements • Genetic Counseling Implications: Family screening and reproductive planning concerns
  • Section 5: Follow-up Tests
    • Confirmatory Testing: • Fluorescence In Situ Hybridization (FISH): Confirms specific chromosomal deletions/duplications with targeted probes • Quantitative PCR (qPCR): Validates copy number changes in specific regions of interest • Digital PCR (dPCR): High-precision copy number verification for small regions or mosaic CNVs • Karyotyping: If large structural rearrangements or aneuploidies suspected • Whole Genome Sequencing (WGS): Provides higher resolution and detects smaller CNVs (<50 kb)
    • Parental Testing: • Parental Chromosomal Arrays: Determine if CNV is de novo or inherited • Parent of Origin Testing: Essential for imprinting disorders (Prader-Willi, Angelman syndromes) • Chromosomal Analysis of Parents: Identify undiagnosed parental carriers of balanced translocations • Genetic Counseling for Parents: Risk assessment for additional offspring with same abnormality
    • Gene-Specific Molecular Testing: • Targeted Gene Sequencing: For point mutations in genes within CNV regions • Full Gene Sequencing: If CNV partially deleted gene may have second mutation • Methylation Analysis: For imprinted gene disorders (PWS, AS) • BRCA1/BRCA2 Sequencing: If large deletions detected in cancer predisposition genes • TP53 Sequencing: For Li-Fraumeni syndrome screening
    • Imaging and Radiological Studies: • Cardiac Echocardiography: For patients with cardiac defects associated with certain CNVs (22q11.2 deletion) • Brain MRI: Neuroimaging for CNVs affecting CNS; assess structural abnormalities • Renal Ultrasound: For CNVs associated with urogenital anomalies • Skeletal Survey: If skeletal dysplasia or bone anomalies suspected • Ophthalmological Examination: For vision problems in certain syndromes
    • Specialist Evaluations: • Developmental Pediatrician: Comprehensive developmental assessment • Neurologist: For seizure disorders, neurological complications • Cardiologist: Cardiac assessment and management • ENT Specialist: Hearing evaluation, speech/language assessment • Ophthalmologist: Vision screening, eye abnormality evaluation • Endocrinologist: Growth hormone, metabolic assessment • Oncologist: Cancer surveillance for predisposition syndromes • Geneticist: Comprehensive genetic counseling and family planning
    • Developmental and Functional Testing: • Psychometric Testing: IQ assessment and cognitive evaluation • Developmental Quotient Testing: Bayley Scales, other developmental assessments • Speech-Language Pathology Evaluation: Communication abilities • Occupational/Physical Therapy Assessment: Motor and functional skills • Psychological Evaluation: Behavioral and psychiatric assessment
    • Monitoring and Screening Protocols: • Cancer Surveillance: Annual imaging and screening for cancer predisposition syndromes • Growth Monitoring: Regular height, weight measurements for growth disorders • Developmental Progress: Periodic assessments to track developmental milestones • Psychiatric Monitoring: Regular mental health screening for at-risk populations • Metabolic Monitoring: Lipid panels, glucose testing for metabolic syndrome risk • Hearing/Vision Screening: Annual auditory and ophthalmological assessments
    • Complementary Genetic Testing: • Whole Exome Sequencing (WES): Comprehensive point mutation detection in coding regions • Targeted Gene Panels: For specific conditions (autism panel, intellectual disability panel) • RNA Sequencing: When expression abnormalities suspected • Functional Studies: Cell-based assays to assess protein function • Population Genetics Database Comparison: DECIPHER, gnomAD, ClinVar consultation
  • Section 6: Fasting Required?
    • Fasting Requirement: NO - Fasting is NOT required for Chromosomal Array CGH + SNP POC testing
    • Sample Collection Requirements: • Blood Sample: 2-5 mL of venous blood in EDTA (ethylenediaminetetraacetic acid) tube • Alternative Samples: Saliva, buccal swabs, tissue samples acceptable in specialized settings • No special preparation needed before blood draw • Patient can eat or drink normally before collection • No timing restrictions related to meals or hydration
    • Sample Handling and Transport: • Keep sample at room temperature or refrigerated (2-8°C) if delayed transport • Do NOT freeze sample unless specifically instructed • Deliver to laboratory within 24-48 hours of collection • Ensure proper tube labeling with patient identification • Maintain chain of custody documentation
    • Medications - No Restrictions: • Continue all regular medications as prescribed • No medication adjustments needed for this test • Genetic testing is not affected by current drug therapy • Herbal supplements and vitamins do not interfere • Over-the-counter medications may be taken normally
    • Patient Preparation Instructions: • Arrive well-hydrated to facilitate blood draw • Wear comfortable, loose-fitting clothing with accessible arms • Inform phlebotomist of any history of fainting or difficult venipuncture • Remain calm and still during blood collection • For infants: May be breastfed or given formula as normal • For children: No special restrictions; normal diet maintained • No alcohol consumption restriction (not related to test accuracy)
    • Informed Consent and Genetic Counseling: • Pre-test genetic counseling recommended, especially for prenatal or pediatric testing • Informed consent document required before sample collection • Discussion of possible findings and implications advisable • Family notification and privacy considerations should be addressed • Post-test counseling essential for interpretation and management planning
    • Point-of-Care (POC) Specific Considerations: • Rapid turnaround time (24-48 hours) vs traditional array testing (7-14 days) • Results may be preliminary pending formal confirmation • Designed for urgent clinical settings (prenatal diagnosis, neonatal emergencies) • Reduced sample requirements in some POC platforms • Immediate notification to healthcare team upon completion • Secondary confirmatory testing often required after initial POC result

How our test process works!

customers
customers