Institute of Human Genetics

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Sample Collection

Collection Of Samples

BLOOD

  • Chromosome Study: Collect 3-4 ml of blood in sodium heparin tube.
  • DNA extraction or Molecular Study: Collect 4-5 ml of blood in K3-EDTA tube
  • Leucocyte Enzyme Study: Collect 4-5 ml of blood in K3-EDTA tube
  • Galactose and Gal-P Study: Collect 2-3 ml blood in sodium heparin tube
  • TMS or MS/MS Study: Put the blood drops on filter papers directly by heel prick

URINE

  • Collect about 15 ml of mid stream urine from first morning sample

AMNIOTIC FLUID

  • Collect 20-30 ml of fluid under guidance of ultrasound at the gestational age between 15-20 weeks in a sterile special tube available from Genetic Centre. Remove first few ml if blood stained. Transfer the same tube screw tightly with coolant packs.

CHORIONIC VILLUS:

  • Collect about maximum 30 mg of CV sample under the guidance of ultrasound at the gestational age between 10 to 13 weeks in a sterile tube containing sterile media provided by Genetic Centre.

BONE MARROW:

  • Collect 3-5 ml of bone marrow in sterile tube containing sterile transport media with heparin. If sterile media is not available use sterile glucose saline.

ABORTUS TISSUE:

  • Collect 30mg of abortus tissue in the tube containing sterile transport media. If sterile media is not available, use glucose saline and add two drops of crystalline geramycin or gentamycin. DO NOT USE FORMALIN FOR ANY GENETIC TESTING.

  • Collect any sample for genetic testing in very aseptic condition. Avoid contamination during collection of sample. (Blood, Amniotic Fluid, Chorionic Villus, Bone Marrow, Cord Blood and Abortus Tissue).
  • First clean skin with 70% methanol or spirit, use vaccutainers and needles to overcome any contamination and leakage during blood collection.
  • Prior to withdrawing the blood, check that the tube should contain proper anticoagulant and cap is properly closed. Mix the blood appropriately to avoid clotting.
  • Store all blood samples at 2-8°C. Do not freeze any sample.
  • Transport sample through courier, which should reach to us within 48 hours. No icepacks or cooling is required during transport. Transport samples at RT without icepacks. Download the Clinical Case Record Form and send the duly filled form along with the sample.
    CLICK HERE TO DOWNLOAD THE CLINICAL CASE RECORD FORM.
  • In case of prenatal study, collect the appropriate sample and send the duly filled and signed consent form (Form G & E) of the patient.
    CLICK HERE TO DOWNLOAD THE FORM G & E.
  • Molecular diagnosis is achieved by sequencing analysis. This requires blood of affected index subject. It is important that blood / DNA of the affected child should be stored/ banked, if genetic disease is suspected or diagnosed. Our laboratory provides extraction and storage of DNA as well.