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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.

Deliverables include:

  • Clinical report.
  • Pre-test and post test genetic counseling.
  • Recommendations and guidelines from our genetic counselor, including further tests.
prenatal

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

WHAT IS CHROMOSOMAL MICROARRAY?

Chromosomal microarray(CMA) is a sophisticated microarray technology that analyzes the entire genome. CMA detects the submicroscopic chromosomal deletions/duplications, referred to as copy number variants (CNVs) , associated with many genetic disorders typically missed by traditional karyotyping .
The high-resolution, whole-genome technique is quickly replacing traditional karyotyping as a first-tier genetic test to screen for suspected chromosomal anomalies.

CLINICAL UTILITY

note

Clinical diagnosis of cytogenetic abnormalities


differential

Differentiation between de novo(new unexplained mutations) and familial history of disorders


prenatal

Prenatal diagnosis of at-risk pregnancies & at-risk family members.


clarty

To clarify the clinical significance of copy number changes


influence

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

CMA in Prenatal Testing

prenatal testing

Prenatal testing

Diagnosis for fetal chromosomal imbalances is important as it is the contributing factor for some adverse obstetric outcomes - pregnancy loss, genetic syndromes etc. The accurate diagnosis of such chromosomal imbalances is a critical component of prenatal genetic evaluation.


  • CMA is recommended for patients undergoing invasive prenatal diagnosis with one or more major fetal structural abnormalities identified by ultrasonographic examination.
  • Abnormal maternal serum screen - improved detection of causative abnormalities.
  • Advanced maternal age.
  • Family history of genetic diseases.
  • Consanguine marriages.

Recurrent Pregnancy Loss (RPL)

Over 53.2% of miscarriages are product-of-conceptions (POCs) of couples with adverse pregnancy histories. Genetic evaluation using CMA is an effective way to identify cause, estimate recurrence risk, and make informed decisions for planning, effective management and care of subsequent pregnancies.


  • CMA on POC samples is of great importance when one of the parent is balanced translocation carrier but could not be distinguished by conventional karyotype.
  • Detects if the pregnancy loss was due to any cytogenetic abnormalities/Undiagnosed Multiple Congenital Anomalies/Family history of a genetic disease.

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


MAPMYGENOME - CMA OFFERINGS

Chromosomal Microarray genotyping

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


750000-dna

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


copy-neutral

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

Copy Number Variations as small as 2.3kB CNV regions detected.


high-density

High-density screening of 324 known cytogenetic regions commonly screened & used as hotspots for cytogenetic testing.


genomic structure

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


also-covers

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

TEST SAMPLE REQUIREMENTS

extracted

Extracted DNA samples (1µg - 2µg)

poc

POC (Product of conception) 100-200g in PBS Solution

edta

EDTA Blood (2-3ml) for MCC assay

csv-sample

CVS Sample/Amniotic Fluid/Cultured Cells - Cell Pellet in 1.5mL tube

*Maternal Cell Contamination assay is required to rule out the presence of maternal cell contamination within fetal specimen as one of the risks associated with prenatal testing (the maternal DNA may mask the results of any genetic testing performed on the fetal DNA) which can occur when a fetal specimen comes into contact with maternal blood or tissue.

How Does Chromosomal MicroArray Work?



sample

Sample Collection

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

lab

Lab Processing

The sample processed on Illumina Global Screening Array Bead chip

analysis

Data Analysis

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

report

Report Generation

Our team generates a comprehensive report based on genetic findings, reviews the report, and shares it with your doctor via email.

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Chromosomal MicroArray

1. Does this test provide confirmatory results?

2. Does this test carry any risk for the baby?

3. What is the right time to get a CMA test done?

4. Why is CMA recommended over Karyotyping in prenatal diagnostics?