Services

Reproductive Genetics Program

Next Generation Sequencing

Next Generation Sequencing or NGS is an ultra-high throughput sequencing technology that allows sequencing of DNA and RNA to carry out all genomic & molecular genetic studies. NGS is popularly known as modern sequencing technology and provides in depth information of complex genomic variations in affected individuals.

Lilac Insights, widely uses NGS technology for advance study & analysis of complex genetic conditions because NGS

  • Accessible
  • Sequences whole genome rapidly
  • Deeply sequences targeted regions
  • Highly quantitative and adaptable to meet clinical & medical needs

NGS technology is useful for the diagnosis of rare genetic disorders and single gene disorders. When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. Some examples include cystic fibrosis, muscular dystrophy, polycystic kidney disease. These single gene disorders are extremely rare and are inherited in multiple inheritance patterns that are predictable when you know what they are.

The NGS platform helps to determine the inheritance patterns of the disorder, which would further guide the clinicians in making treatment and management decisions. It also helps determine the inheritance patterns of the disorder which would subsequently guide us in ascertaining the recurrence risk in all pregnancies.

Clinical Information

This helps identify

  • Point mutations in autosomal recessive conditions/Inborn errors of metabolism (where a particular metabolite is not broken down causing significant abnormalities) such as Phenylketonuria, Propionic Acidemia
  • X-linked disorders such as Rett syndrome, Adrenoleukodystrophy, Haemophilia
  • Autosomal dominant conditions such as Noonan syndrome, Tuberous Sclerosis
  • Neuromuscular disorders such as Charcot-Marie Tooth Disease, Hereditary Neuropathies, Ciliopathies (Joubert Syndrome, Polycystic Kidney disease, Retinitis Pigmentosa)
  • Mitochondrial disorders such as Kearns-Sayre syndrome, mitochondrial encephalomyopathy
  • Oncogenetics: identifying mutation targets through targeting therapy for known cancer genes.