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Molecular Lab

Detection of single-gene mutations, multi-gene panel is achieved by advanced molecular technologies such as PCR, Sanger sequencing, microarrays and next  generation sequencing.

Mutation analysis or DNA testing in our molecular laboratory detects genetic mutations at single gene level which include SNPs, mutations, deletions, duplications, nucleotide repeats, inversions and insertions using cutting-edge technology. Lab uses advanced molecular technologies such as PCR (ARMS PCR, Multiplex PCR, RFLP) and Sanger sequencing method for single gene mutations. Advanced molecular technologies include Next Generation Sequencing (NGS) or high through put sequencing to test multi gene panels and Micro array testing (750K) for unknown syndrome identification by examining multiple genomic areas.

Our molecular lab results are analysed by expert molecular biologists and medical genetics and interpreted with great care and attention based on case details. Report elaborated on identified mutation, phenotype and genotype correlation, recurrence risk, prenatal options, pre-disposition (if applicable) and detailed recommendations.

Process Sample to Reporting

QC Process

  1. Sample QC
  2. DNA Extraction QC
  3. Amplification QC
  4. Sequencing Runtime QC
  5. Data QC metrics
  6. Reporting

Amplification – Post PCR

  1. Incoming package condition
  2. Morphology of EDTA, swab, tissue or saliva
  3. Smears
  4. Colouration
  5. Broken or leaking
  6. Adequate sample information

Analysing DNA quality

  1. Up in the Gel ( large in size)
  2. Down in the Gel ( small in size)
  1. Intense colour ( high quantity)
  2. Down in the Gel (low quantity)

Genomic DNA

Degraded low quality DNA

Amplification – Post PCR

Sequencing – Runtime Signals

Incremental improvements in Seq

These are logarithmically linked to error probability

Sequencing QC

Phred Quality Scores

Data Analysis : Good Seq