Earn 100 points for writing a review for this productMapmygenome offers Chromosomal Microarray Analysis for prenatal and postnatal screening. Over 6,50,000 markers are analysed for Copy Number Variants associated with congenital anomalies, developmental disorders, metabolic diseases, and other known conditions. Our technology is capable of detecting CNVs as small as 30MB CNV regions as well as Copy neutral loss of heterozygosity (Cn-LOH) region based on intensity and SNP genotype. Pre-test and post-test genetic counselling by our experts can help parents and physicians in making informed choices.
Deliverables include:
- Clinical report.
- Pre-test and post test genetic counseling.
- Recommendations and guidelines from our genetic counselor, including further tests.
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A quick, reliable, accurate, cost-effective genetic test to give you the diagnosis for clinical management & care.
WHAT IS CHROMOSOMAL MICROARRAY?
Across the globe, chromosomal microarray (CMA) is quickly replacing traditional karyotyping as a first-tier genetic test to screen for suspected chromosomal anomalies, developmental disorders, epilepsy, hypotonia, multiple congenital anomalies, certain metabolic diseases, and other known conditions caused due to cytogenetic abnormalities.
- The high-resolution, whole-genome technique helps detect the submicroscopic deletions/duplications called copy number variants (CNVs) in the chromosomes
- CNVs are associated with a wide range of genetic disorders - Autism Spectrum disorders, autosomal disorders , X-linked Inheritance , UPD (Uniparental Disomy) and more.
CLINICAL UTILITY
Clinical diagnosis of cytogenetic abnormalities
Differentiation between de novo(new unexplained mutations) and familial history of disorders
To clarify the clinical significance of copy number changes
To influence the management of the conditions/disorders in a better way including lifestyle interventions.
ADVANTAGE OF CMA OVER OTHER CLINICAL PRACTICES:
Detects copy-neutral loss of heterozygosity (CN-LOH) - 0.5 to 1 mb.
High density achieved by 750000 markers & SNP tagging
Unbalanced translocations, as low as 30 kb can be detected
Low level Mosaicism, upto 20% can be detected
The American College of Medical Genetics and Genomics (ACMG) recommends CMA as the first-line genetic test to detect the suspected chromosomal anomalies, developmental delay, intellectual disability, autism, and/or multiple congenital anomalies, and other known conditions caused due to cytogenetic abnormalities.
CMA IN POSTNATAL
BEHAVIOURAL
Autism Spectrum Disorder / Pervasive Developmental Disorder, Obsessive Compulsive Disorder.
DEVELOPMENT
Fine Motor Delay, Gross Motor Delay, Speech Delay, Limb Anomalies, Polydactyly, Club Foot
COGNITIVE
Intellectual Disability, Learning Disability.
GENITOURINARY
Ambiguous Genitalia, Hydronephrosis, Kidney Malformation, Undescended Testis
CRANIOFACIAL
Cleft Lip/Palate, Dysmorphic Facial Features, Ear Malformation, Macro/Microcephaly
NEUROLOGICAL
Epilepsy/Seizures, Brain Anomaly
CMA is the first step to get the diagnosis you need for the effective management of genetic conditions and their risk of recurrence.
MAPMYGENOME - CMA OFFERINGS
Chromosomal Microarray genotyping with Illumina 750K Bead chip optimized for efficient cytogenetic analysis.
High-density screening of 324 known cytogenetic regions commonly screened & used as hotspots for cytogenetic testing.
Copy neutral loss of heterozygosity (Cn-LOH) region detected based on intensity & SNP genotype in order to screen for UPD (Uniparental Disomy) & autosomal recessive disorders.
Copy Number Variations as small as 2.3kB CNV regions detected.
750000 markers covering ~9000 genes analyzed with emphasis on ~447 disease-associated genes.
495268 genomic structural variants researched from Database of Genomic Variants for better interpretation.
Also covers: Pericenters and Telomeres | Sex Chromosomes | Pseudo Autosomal Region (PAR1 and PAR2) | Common Regions of Interest Associated with Known Syndromes
TEST SAMPLE REQUIREMENTS
EDTA Blood (2-3ml)
Extracted DNA samples (1µg - 2µg)
How Does Chromosomal MicroArray Work?
Sample Collection
Your Doctor places a request for the test. The sample is tested for the susceptibility.
Lab Processing
The sample processed on Illumina Global Screening Array Bead chip
Data Analysis
Your genetic sequence is subjected to extensive Cytogenetic analysis to extract your health information.
Report Generation
Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.
