Cytogenetics and Molecular Genetics

Reliance Life Sciences 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 diagnostic 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, Amniotic Fluid, Chorionic Villi, Cord Blood, Bone Marrow / Leukemic Blood
  • Chromosomal breakage studies: Fanconi anemia
  • Fragile X Detection

Fluorescence In-Situ Hybridization (FISH)

  • FISH for Solid Tumor Tissue
    • HER-2/neu, Glioma panel, Lung Cancer panel
  • FISH for Aneuploidy detection
    • Pre-Implantation Genetic Diagnosis (PGD), Chromosomes 13, 18, 21, X & Y aneuploidy detection (Amniotic fluid, chorionic villi, product of conception, cord blood, semen, follicular fluid and peripheral blood)
  • FISH for Blood/Bone marrow
    • BCR / ABL translocation (9;22) in CML, AML, ALL PML / RARA, Duplication SNRPN in Autism, Detection of Myelodysplastic syndromes, AML panels, CLL panel, ALL, Angelman/Prader-Willi Syndrome
  • FISH for Sperm Aneuploidy

Molecular Genetics Services

  • Mitochondrial Mutations
  • Huntington disease fragment analysis
  • Duchenne muscular dystrophy MLPA
  • 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.