Genetics

Genetics

All about Chromosomes, Genes, Genetic Disorders and Various Inheritance patterns

The search for identification of Disease Genes in Genetic Disorder is the ‘Need of The Hour”. Ordering sophisticated Genetic tests for arriving at molecular diagnosis is increasingly done nowadays.Analysis and interpretation of Next Generation sequencing data which were previously considered to be daunting has become more practical with Geneticist being employed and their role is critical in this new era of Next Generation sequencing.

Ofcourse, The Gene- has it all, helps in disease characterization, course and severity of illness,and the propensity of Genetic event to affect the subsequent pregnancies and inadvertently the Next Generation. All these information will be shared to the Patient and the concerned family by our Medical Genetics Expert

Steps Involved in Genetic Consultation

  • IP/OP Consultation
  • Detailed History taking, Physical Assessment, review of previous medical records if any
  • Advice appropriate Genetic testing
  • Pre-test Genetic Counselling
  • Need for Prenatal Diagnosis for Pregnant Mothers
  • Analysis and Interpretation of Genetic Test reports
  • Post Test Genetic counselling
  • Familial Segregation analysis
  • Familial Genetic Screening for certain Cancers

Genetic Investigations suggested

  • Karyotyping
  • QF-PCR,TP-PCR
  • Fluorescence In situ Hybridization-FISH
  • Chromosomal Micro-Array
  • Whole Exome Sequencing
  • Mitochondrial genome Sequencing
  • Carrier Exome Sequencing
  • Multiplex Ligation Dependant Probe Amplification-MLPA
  • Methylation Specific -Multiplex Ligation dependant probe Amplification-MS-MLPA
  • Trio-exome Sequencing
  • Whole Genome Sequencing
  • Exon Array
  • Targeted Gene Sequencing panels
  • Variant Confirmation and Variant validation by Sanger Sequencing

Specialist Doctors

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