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A GENETIC TEST...
FOR A HEALTHY FUTURE

A quick, reliable, accurate, cost-effective genetic test to give you the diagnosis you need for clinical management & care.


Superior coverage

Mapmygenome technology provides superior clinically focused, genome-wide coverage.

Comprehensive reports

Mapmygenome’s reports include references to assist in patient counseling and tools for evaluating non-copy number related abnormalities, such as regions of homozygosity.

Expert interpretation

Mapmygenome's laboratory directors have decades of experience in interpreting microarray results and can assist you in understanding complex results.

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WHAT IS CHROMOSOMAL MICROARRAY?

    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

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.

Advantage of CMA over other clinical practices:

The American College of Obstetricians and Gynecologists (ACOG) & The Society for Maternal-Fetal Medicine (SMFM) recommended CMA as the first-line genetic test in pregnancies showing fetal abnormalities.

CMA KARYOTYPING FISH
Increased resolution (~50-100 kb) in CMA allows for Identification of chromosomal imbalances Resolution limited to around 5 Mb. Can only detect deletions/duplications of regions specifically targeted by the probe
Greater accuracy Greater chance of missing subtle abnormalities Rare very small deletions can not be detected.
Diagnostic yield ~30% 5 – 10% of diagnostic yield 5 – 10% of diagnostic yield
Covers the Whole Genome to detect CNVs Covers the Whole Genome with low resolution to detect CNVs Can only detect deletions/duplications of regions specifically targeted by the probe

WHEN IS THIS RECOMMENDED?

CMA testing is often recommended in the following scenarios:

PRENATAL

Pregnancy

Still birth, RPL(recurrent pregnancy loss), Miscarriage, Spontaneous abortion, Abnormal maternal serum screen, Fetal abnormalities

Family history

Chromosome Abnormality, Parents with >2 Miscarriages, Relatives with Similar History.

POSTNATAL

GROWTH

Failure to Thrive, Short Stature, Overgrowth

COGNITIVE

Intellectual Disability, Learning Disability

DEVELOPMENT

Fine Motor Delay, Gross Motor Delay, Speech Delay, Limb Anomalies, Polydactyly, Club Foot

GENITOURINARY

Ambiguous Genitalia, Hydronephrosis, Kidney Malformation, Undescended Testis

NEUROLOGICAL

Epilepsy/Seizures, Brain Anomaly

BEHAVIOURAL

Autism Spectrum Disorder / Pervasive Developmental Disorder, Obsessive Compulsive Disorder

Family history

Chromosome Abnormality, Parents with >2 Miscarriages, Relatives with Similar History, Previous Child/Pregnancy with Undiagnosed Multiple Congenital Anomalies

CRANIOFACIAL

Cleft Lip/Palate, Dysmorphic Facial Features, Ear Malformation, Macro/Microcephaly


CMA is the first step to get the diagnosis you need for the effective management of genetic conditions and their risk of recurrence.


CMA LP Model

Clinical Genetic testing

CMA-LP-Mod2

MAPMYGENOME - CMA OFFERINGS


Chromosomal Microarray genotyping with Illumina 750K Bead chip optimized for efficient cytogenetic analysis.

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.

750000 markers covering ~9000 genes analyzed with emphasis on ~447 disease-associated genes.

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.

Also covers: Pericenters and Telomeres | Sex Chromosomes | Pseudo Autosomal Region (PAR1 and PAR2) | Common Regions of Interest Associated with Known Syndromes

495268 genomic structural variants researched from Database of Genomic Variants for better interpretation.

Test sample requirements

EDTA Blood (2-3ml)

CVS Sample ; Amniotic Fluid/Cultured Cells

Extracted DNA samples (1µg - 2µg)

POC ( product of conception)

Deliverables

Clinical report within 4-6 weeks

Pre-test and post test genetic counseling

Recommendations report and guidelines from our genetic counselor

How Does Chromosomal MicroArray Work?

1 SAMPLE COLLECTION

Your Doctor places a request for the test. The sample is tested for the susceptibility.

2 LAB PROCESSING

The sample processed on Illumina Global Screening Array Bead chip

3 DATA ANALYSIS

Your genetic sequence is subjected to extensive Cytogenetic analysis to extract your health information.

4 REPORTING

Your genetic sequence is subjected to extensive analysis to extract your health information.

5 GENETIC COUNSELING

Our genetic counselor will be available to discuss your results at a time and day convenient for you.

6 RECOMMENDATIONS

A report will be shared post the session that will include personalized recommendations should help better manage your health in the future.

WHY MAPMYGENOME ?

20 Years of Genomics Experience

Latest Technology & Sequencing Platforms

Highly Skilled Bioinformatics Team

ISO, CFR22 Part 11 & Other Certifications

Genetic Counseling