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Chromosomal Microarray Analysis

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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.
  • Chromosomal Microarray genotyping with Illumina 650K Bead chip is Optimized for Efficient Cytogenetic Analysis.
  • 650000 markers covering 9000 genes analyzed with emphasis on 447 disease-associated genes.
  • CNVs studied for growth, developmental, neurological, craniofacial, cognitive, genitourinary, and behavioural disorders; family history of obstetric complications and chromosome abnormalities.
  • Clinical research content collaborated by experts in medical genomics 495268 genomic structural variants researched from Database of Genomic Variants for better interpretation.
  • Reporting as per ACMG and ACOG guidelines.
  • Pre- and post-test genetic counseling by experts.
  • Culturing of prenatal samples to avoid maternal contamination.
  • CNVs as small as 30MB CNV regions detected.
  • Copy neutral loss of heterozygosity region detected based on intensity and SNP genotype which helps in detecting UPD (Uniparental Disomy) and Autosomal recessive disorders.
  • 4-6 weeks turnaround time.
  • Final deliverables include clinical reports with diagnostic findings, as per client profile or physician/counsellor indications. Raw data available on request.
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