BabyMap - CMA Postnatal (Postnatal)

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