SIGNIFICANCE OF GENETIC STUDY

OBSTETRICIAN & GYNECOLOGISTS ++

  • Primary amenorrhoea (blood genetic study)
  • Primary sterility (couple genetic study)
  • Repeated pregnancy wastages (genetic study of POC and couple)
  • Past history of abnormal products of conception (parental and prenatal genetic study)
  • Abnormal fetal markers (triple marker, ultrasound prenatal genetic study)
  • Past history of abnormal children (parental and prenatal genetic study)
  • Advanced maternal age (Prenatal genetic study)
  • Azoospermia & severe oligospermia (blood chromosome analysis and ‘Y’ chromosome microdeletion study by PCR)
  • Repeated IVF failure (Preimplantation genetic diagnosis-PGD)

PEDIATRICS ++

  • All congenital abnormalities (Cleft lip and palate, dysmorphic features, etc.)
  • Short stature
  • Physical and mental retardation
  • Delayed milestone
  • Ambiguous genitalia
  • All congenital heart diseases
  • Microdeletion syndromes (FISH & PCR)
  • X-linked mental retardation

ONCOLOGISTS ++

  • Her 2/neu gene(breast cancer marker)
  • Androgen receptor gene (secondary prostate cancer)
  • RB1 gene (Retinoblastoma)
  • P53 tumor suppressor gene
  • Recurrence urinary bladder cancer
  • N-myc oncogene (Neuroblastoma)

HEMATOLOGISTS ++

  • ABL/BCR gene (Chronic myeloid leukemia)
  • PML/RARA (Promyelocytic Leukemia)
  • AML/ETO (Acute myeloid leukemia)
  • TEL/AML 1 (B-cell Acute lymphocytic leukemia)
  • Trisomy 12
  • Trisomy 8
  • MLL
  • C-MYC
  • CBFB
  • ALK
  • MRD
  • MDS

COMMON MOLECULAR GENETIC TESTINGS ++

DNA ANALYSIS

FOR INFECTION DISEASES

  • Human Papilloma Virus
  • Helicobacter Pylori
  • Tuberculosis
  • HIV
  • HBV
  • HCV

FOR GENETIC DISORDERS

  • Thalassaemia
  • All muscular dystrophies
  • Cystic fibrosis
  • Sickle cell anemia
  • Y Chromosome microdeletion

FOR GENETIC IDENTITY