Genetic Screening and Genetic Diagnosis Labs

Pre-implantation Genetic Screening ( PGS) :

Pre-Implantation Genetic Screening (PGS), refers to removing one or more cells from an in vitro fertilization embryo to test for chromosomal abnormality.

We are using NGS(Next-generation sequencing) technology to perform PGS for aneuploidy screening.

Next-generation sequencing

Next-generation sequencing refers to non-Sanger-based high-throughput DNA sequencing technologies. Millions or billions of DNA strands can be sequenced in parallel, yielding substantially more throughput and minimizing the need for the fragment-cloning methods that are often used in Sanger sequencing of genomes.With the help of this technique we can get result within 12 to 14 hours and we can do fresh embryo transfer.

Pre-implantation genetic diagnosis (PGD):

Pre-implantation genetic diagnosis (PGD) is a technique that involves checking the genes of embryos created through ICSI for any kind of serious genetic defects. This method allows people with a specific inherited condition in their family to avoid passing it on to their children. In most cases, the female, male, or both partners have been genetically screened and identified to be carriers of potential genetic conditions.

Genetic testing of embryos is recommended for:

  • Women above the age of 35
  • Those who have a family history of a serious genetic disorder
  • Women who have had a number of abortions because your baby had a genetic condition
  • Those who already have a child with genetic defects
  • Carriers of sex-linked genetic disorders
  • Carriers of single gene defects

Those with chromosomal disorders

Advantages of PGD

The advantages of PGD include:

  • It allows couples to have biological children who might not have done this choice otherwise.
  • This technique helps reduce costs normally associated with birth defects and their treatments.


We can perform PGD for

  • Autosomal Recessive Polycystic Kidney Disease
  • Becker muscular dystrophy
  • Beta thalassaemia
  • Congenital adrenal hyperplasia (gene CYP21A2)
  • Cystic fibrosis
  • Charcot-Marie-Tooth type 1A
  • Duchenne muscular dystrophy
  • Familial amyloid polyneuropathy
  • Fragile X syndrome
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • Huntington disease
  • Multiple endocrine neoplasia, type 2A
  • Myotonic dystrophy (Steinert)
  • RhD incompatibility
  • Spinal muscular atrophy
  • X-linked adrenoleukodystrophy

PCR(polymerase chain reaction)

Diagnostic Karyotyping