Chromosomal MicroArray

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

Report generation with quick TAT

99?curacy

Fast Therapeutic Benefits

Easy to read & self-explanatory report

Booking Procedure:

• Fill the booking form on right side with Name, Address, Mobile no.
• Blood/Urine samples will be collected from your Home address. 10-12 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 couriered at your residence in 3-4 working days if hardcopy is opted. We will email the reports within 48-72 hrs on your email address mentioned while booking.

• Sample pickup at home
• Online reports within 48 hours