Chromosomal Microarray(CMA)
Chromosomal microarray (CMA) is a sophisticated microarray technology that analyzes the entire genome, detecting submicroscopic chromosomal deletions/duplications known as copy number variants (CNVs). CNVs are commonly associated with various genetic disorders that are often missed by traditional karyotyping. This high-resolution, whole-genome technique is rapidly replacing traditional karyotyping as the primary genetic test for screening suspected chromosomal anomalies. CNVs are linked to a diverse range of genetic disorders, including Autism Spectrum Disorders, autosomal disorders, X-linked Inheritance, UPD (Uniparental Disomy), and more.
Advantages of CMA over other postnatal testing options
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?n be detected
Uncover behavioural, developmental,cognitive, genitourniary, craniofacial, neurological conditions
Clinical utility
Clinical diagnosis of cytogenetic abnormalities
Differentiation between de novo(new unexplained mutations) and familial history of disorders
Prenatal diagnosis of at-risk pregnancies & at-risk family members.
To clarify the clinical significance of copy number changes
To influence the management of the conditions/disorders in a better way including lifestyle interventions.
MAPMYGENOME - CMA OFFERINGS
Chromosomal Microarray genotyping with Illumina 750K Bead chip optimized for efficient cytogenetic analysis.
750000 markers covering ~9000 genes analyzed with emphasis on ~447 disease-associated genes.
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.
High-density screening of 324 known cytogenetic regions commonly screened & used as hotspots for cytogenetic testing.
495268 genomic structural variants researched from Database of Genomic Variants for better interpretation.
Also covers: Pericenters and Telomeres | Sex Chromosomes | PseudoAutosomal Region (PAR1 and PAR2) | Common Regions of Interest Associated with Known Syndromes
Booking Procedure:
Fill the booking form on the right side with Name, Address, Mobile no.
Blood/Saliva samples will be collected from your Home address. 1 hrs fasting is required.
You need to make the payment by cash to Genetic Testing when Technician comes to pick up the samples OR Pay online after confirmation of booking.
Reports will be shared within 2-3 weeks on your email address mentioned while booking.
Report
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Easy to read & self-explanatory report