Chromosomal Micrarray Analysis (CMA)

Service Description

Mapmygenome 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. 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. 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 Deliverables include: -Clinical report. -Pre-test and post test genetic counseling. -Recommendations and guidelines from our genetic counselor, including further tests. TAT: 3-4 Weeks Sample type: Blood in EDTA