Achievements & Credits
The Department has many firsts to its credit
- The first Pregnancy in Mumbai and Maharashtra for PGT-M with BRAC1 mutation (2019).
- The first laboratory in India to offer detection of 20 microdeletions of the Y chromosome as a diagnostic test (since 2001), and now 30 microdeletions of the Y chromosome, including partial deletions (2019).
- The first pregnancy in India by PGT for a three-way cryptic translocation (2018).
- The first twin live births in India by PGT for an inversion with a cryptic translocation (2016).
- The first pregnancy in India by PGT for a Reciprocal translocation (2014).
- The first pregnancy and live birth in India by PGT for a Robertsonian translocation (2010).
- The first centre in the world to introduce Cumulus Aided Transfer (CAT) – A procedure that has significantly improved pregnancy rates with IVF (2005).
- The first laboratory in India to offer Preimplantation Genetic Screening (PGS) by FISH technique for detection of aneuploidies for 5-11 chromosomes (since 2001).
- The first laboratory in India to routinely offer FISH as a diagnostic test on various samples for conditions ranging from infertility to leukemia (since 2001).
- The first twins in India with Laser Assisted Hatching and Blastocyst Transfer (2000).
- The first laboratory in India to offer Preimplantation Genetic Testing (PGT) for hereditary genetic conditions (since 1999).
- The first pregnancy in South-East Asia using the technique of Laser Assisted Hatching (LAH) (1999).
- The first pregnancy in India using testicular sperm and ICSI (1997).
- The first baby in India by Mechanical Assisted Hatching (1996).
- The first baby in South-East Asia by Intra Cytoplasmic Sperm Injection (ICSI) (1994).
State-Of-The-Art Genetic Tests
- DNA Fragmentation Index (DFI)/ Sperm apoptosis quantification by TUNEL method.
- Preimplantation Genetic Testing (PGT) for all chromosomal aneuploidies (PGT-A) using Next Generation Sequencing (NGS).
- Preimplantation Genetic Testing for monogenic disorders (PGT-M) and PGT-M with HLA matching.
- Preimplantation Genetic Testing of chromosomal anomalies by FISH for subtelomeric translocations and inversions.
- Y chromosome microdeletion detection (29 sequences tagged sites including partial deletions) by multiplex PCR.
- Sperm aneuploidy detection by FISH.
- Beta thalassemia mutation analysis.
- MTHFR, prothrombin mutation analysis.
- Karyotyping with polymorphic variants analysis on blood, CVS, amniotic fluid, cord blood, and products of conception.
- Rapid aneuploidy screening for Prenatal Diagnosis by FISH.
- FISH analysis to check for chromosomal mosaicism.
- FISH for microdeletion syndromes.
- Chromosome breakage study in Fanconi Anemia, Ataxia Telangiectasis, Blooms syndrome.
- Qualitative analysis of bone marrow by conventional karyotyping in leukemia.
- Quantitative analysis of many translocations and XX/XY ratio in case of sex mismatched bone marrow transplantation by FISH in leukemia.
- Urovysion test by FISH for early detection of bladder cancer or recurrence.
- Her2/neu FISH on formalin-fixed paraffin-embedded (FFPE) tumor tissue (Breast, ovarian, esophageal cancer).
- FISH for double and triple-hit Lymphomas.
- Genetic analysis of periodic fever syndromes like Familial Mediterranean Fever (FMF), Blau syndrome, Crohn’s disease, Cryopyrin associated Autoinflammatory Periodic Syndrome (CAPS), Hyperimmunoglobulinemia D (HID) Syndrome, Tumor necrosis factor receptor-associated periodic syndrome (TRAPS), Deficiency of Interleukin-1 receptor antagonist (DIRA), Deficiency of adenosine deaminase 2 (DADA).
