Microarray is a first-line test recommended for the initial postnatal evaluation in various clinical scenarios, including multiple anomalies that are not specific to a well-delineated genetic syndrome, apparently nonsyndromic developmental delay/intellectual disability, and autism spectrum disorders.1
A quick, reliable, accurate, cost-effective genetic test to give you the diagnosis for clinical management & care.
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.
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% can be detected
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 - 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 specification
| Technique | Variant types | TAT | Sample requirements |
|---|---|---|---|
| Microarray | CNV | 3 -4 weeks |
|