Businesses - Molecular Medicine - Cytogenetics and Molecular Genetics

Cytogenetics and Molecular Genetics

Reliance Life Sciences is involved in cytogenetic research and provides cytogenetic services using modified Karyotyping and Fluorescence In-Situ Hybridization (FISH) based assays to detect numerical and structural chromosomal abnormalities, including translocations, amplifications and micro-deletions.

Prenatal diagnosis for all karyotype aberrations and rapid FISH based assays for Down's syndrome, Chronic Myeloid Leukemia and Acute Promyelocytic Leukemia, Myelodysplastic syndrome, solid tumors like breast, gastric and lung, add to the repertoire of essential high-end molecular genetic testing services offered by Reliance Life Sciences.

Specialized molecular testing is also provided for exon deletions for Duchenne Muscular Dystropy, BCR-ABL transcripts detection and monitoring in CML, Mitochondrial mutations associated with various neurological diseases, mutations associated with Spino-cerebellar Ataxia, Huntington’s disease, Cystic Fibrosis, Alpha & Beta and Deltabeta Thalassemia mutations identification in globin gene and Y chromosome deletion for male infertility investigations.

Cytogenetics Services


  • Karyotyping of Peripheral Blood Cells
  • Chromosomal breakage studies: Fanconi anemia
  • Fragile X Detection
  • Amniotic Fluid sample study
  • Cord Blood sample study
  • Chorionic Villi sample study
  • Karyotyping of Bone Marrow / Leukemic Blood

Fluorescence In-Situ Hybridization (FISH)

  • HER-2/neu
  • Pre-Implantation Genetic Diagnosis (PGD
  • Angelman/Prader-Willi Syndrome
  • BCR / ABL translocation (9;22) in CML, AML, ALL
  • PML / RARA
  • Peripheral Blood Cells study
  • Duplication SNRPN in Autism
  • Chromosomes 13, 18, 21, X & Y aneuploidy detection (Amniotic fluid, chorionic villi, product of conception, cord blood, semen, follicular fluid)
  • Detection of Myelodysplastic syndromes by FISH
  • Sperm apoptosis
  • Multiple myeloma
  • AML panels
  • CLL panel by FISH
  • ALL by FISH
  • C-myc rearrangement
  • Lung Cancer panel
  • MMR

Molecular Genetics Services

  • Mitochondrial Mutations
  • Huntington disease fragment analysis
  • Duchenne muscular dystrophy MLPA
  • Ataxia, Myoclonus & Deafness (AMDF)
  • Chronic Progressive External Opthalmoplegia (CPEO)
  • Maternally Inherited Deafness or Aminoglycoside Induced deafness (DEAF)
  • Diabetes Mellitus and Diabetes Mellitus + Deafness (DM / DMDF)
  • Exercise Intolerance (EI)
  • Leigh's Disease (LD)
  • Leber's Hereditary Optic Neuropathy (LHON)
  • Mitochondrial Encephalopathy (ME)
  • Mitochondrial Encephalopathy and Lactic Acidosis with Stroke like Syndrome (MELAS)
  • Myoclonic Epilepsy Associated with Ragged Red Fibers (MERRF)
  • Mitochondrial Myopathy (MM)
  • Neurogenic Ataxia Retinitis Pigmentosa (NARP)
  • Progressive Encephalopathy (PE)
  • Sensorineural Hearing Loss (SNHL)
  • BCR-ABL Quantitative Real Time PCR
  • Leukemia translocation panels
  • MPN panel
  • Glioma panel
  • MSI by PCR
  • JAK2 Qualitative PCR

Other Molecular genetics services are listed in Predictive Diagnostics, Companion Diagnostics and Phamacogenomics sections.