SAMPLE COLLECTION

1. Blood Chromosome Studies: -
   

   5 – 10 cc blood in green top vaccutainer (Sodium Heparin) Mix well by inverting. parenttain specimen at R.T.

   Turn Around time: 10 – 20 days.

2. Amniotic Fluid Chromosome Studies: -

   Draw 10 – 20 cc amniotic fluid using sterile technique. Discard first 2 ml aspirate to reduce risk of maternal cell contamination. Aseptically distribute specimen in to two culture tubes. Label with (a) Patients name (b) Gestational Age (c) Doctor's Name (d) Date and time drawn. parenttain specimen at R. T.

   Turn Around time: 8– 14days.

3. Chorionic Villus Studies: -
   

   This is studied at 10 – 13 weeks of pregnancy for various chromosomal & single gene disorders. You need to collect 15 to 20 mg of chorionic tissue in the provided media in aseptic condition & send it to laboratory.

   Turn Around time: one week to 3 weeks depending on the type of investigation.

4. Product of conception-Fetal Tissue/Placenta:

   Selected tissue specimens should be obtained from abortus material. Preferred tissues are maternal cartilage, skin from the upper arm or thigh, fetal membranes, cord or placenta near cord attachment. In the case of an IUFD, send both fetal tissue and a specimen of placenta. Place specimen in a tube containing tiddue culture medium (preferred) or sterile isotonic saline solution. Fill tube completely. Cap tightly and cover with parafilm. Refrigerate until shipment ( Do not freeze)

   Turn Around time : 3 – 4 weeks.

5. Tissue culture of fibroblast :-

   Long term culture of fibroblast from skin biopsy for use in enzymes analysis, DNA analysis etc.
   Biopsy site should be cleaned using a sterile gauze pad saturated acetone. Do not use antiseptic soaps (Betadine, Hibitane) or iodine. Allow to dry. If anesthetic is used, we recommend a lidocaine solution without epinephrine. Obtain a piece of skin (full thickness) 3-5 mm in diameter. Transfer specimen to a tube containing tissue culture medium (preferred) or sterile isotonic saline solution(tubes available on request) Refrigerate specimens until shipment. (DO not freeze)

   Turn around time : 2 – 3 weeks.

6. Oncologic Chromosome Studies

7. Bone Marrow: -
   Specimen should be obtained from the second aspirate. Draw 1 – 2 cc in to a syringe “wetted' with sodium heparin (500 U heparin/cc). Invert syringe to mix with heparin. Immediately add specimen to a tube containing 5-10 ml sterile culture medium (i.e: RPMI 1640 or MEM) (tubes available on request from Genetic Centre) Mix well by inverting. Cap tightly with parafilm. Keep specimen cool (do not freeze). Deliver to laboratory as soon as possible.

   Turn Around Time: 4 – 7 days. CLL: 8 – 14 days.

1. Leukemic Blood: -
   
   Peripheral blood for cancer chromosome analysis should have 10% or more blast cells. Please collect about 5-10 cc in a green top vaccuatte (Sodium Heparin). Mix well by inverting. Keep specimen cool (Do not freeze).
   

   Turn Around Time: 7 – 10 days. CLL: 8 – 14 days.

2. Solid Tumor: -
   
   The amount of tissue required for analysis is dependent on the tumor type (For additional information, please call on +91 079 26921414 / +91 079 26921415 ). Excised tumor tissue should be immediately immersed in medium (RPMI) in a sterile dish or container. The tissue should be kept cool (do not freeze) The tissue should reach the laboratory within 4 hrs otherwise viability of the cells may compromised resulting in culture failure.
   

   Turn Around Time : 14 – 20 days.

3. Fluorescence In Situ Hybridization (FISH)
   
   For FISH study probes available at Genetic Centre are: BCR/ABL, De George syndrome, CEP 8, Chromosome 21, X-Chromosome (Other probes may be available on request).
   
   
4. Peripheral Blood: -
   
   5-10 cc in a green top tube (sodium heparin). Mix well by inverting. parenttain specimen at room temperature. Fixed cells from a previous Cytogenetic study can be used. Contact the laboratory to check the availability of fixed cells.
   
   
5. Amniotic Fluid :-
   
   Performed only after consultation with laboratory director. Call for more information to Genetic Centre.
   
   
6. Bone Marrow: -
   
   Specimen should be obtained from the second aspirate. Draw 1 – 2 cc in to a syringe “wetted' with sodium heparin (500 U heparin/cc). Invert syringe to mix with heparin. Immediately add specimen to a tube containing 5-10 ml sterile culture medium (i.e: RPMI 1640 or MEM) (tubes available on request from Genetic Centre) Mix well by inverting. Cap tightly with parafilm. Keep specimen cool (do not freeze). Deliver to laboratory as soon as possible.
   
   
7. Skin :-
   
   Biopsy site should be cleaned using a sterile gauze pad saturated acetone. Do not use antiseptic soaps (Betadine, Hibitane) or iodine. Allow to dry. If anesthetic is used, we recommend a lidocaine solution without epinephrine. Obtain a piece of skin (full thickness) 3-5 mm in diameter. Transfer specimen to a tube containing tissue culture medium (preferred) or sterile isotonic saline solution (tubes available on request) Refrigerate specimens until shipment. (DO not freeze)
   

   Turn Around Time : 24 – 48 hours.

   FISH to rule out Microdeletions or Cryptic Translocations
   Probes available at Genetic Centre: Di-George Syndrome, Williams Syndrome, Smith-Magenis Syndrome, Miller-Dieker Syndrome, Ratinoblastoma, BCR/ABL (Other probes may be available on request).
   
   
8. Peripheral Blood :-
   
   5-10 cc in a green top tube (sodium heparin). Mix well by inverting. parenttain specimen at room temperature. Fixed cells from a previous Cytogenetic study can be used. Contact the laboratory to check the availability of fixed cells.
   
   
9. Fragile-X Studies :-
   
   Peripheral Blood :- About 5 cc of whole blood in sodium heparin vaccuatte plus 10 cc EDTA vaccuatte. Refrigerate until shipment. Do not freeze.
   

   Turn Around Time: 14 days.

   Pediatric: 2 cc whole blood in a sodium heparin vaccuatte plus 2 cc EDTA vaccuatte.
   
   
10. For DNA Study: -
    
    About 10 cc EDTA blood required for DNA isolation. Pediatric: 2 cc whole blood in an EDTA vaccuatte. Refrigerate specimen until shipment.
    

• Biochemical Genetics:

• Triple or Double Marker Study:
  
  Collect 5 cc of blood in plain tube, separate serum and send it to us with patient information like age, weeks of gestation by sonography and weight.
  Report will take 48 hours.
  
  
• Lysosomal Enzyme study:
  
  For all 14 enzymes or one enzyme 5 cc of blood is required in sodium heparin tube and 1 ml of clear plasma in another screw cap tube.
  Ensure that sample reaches us in 24 to 48 hours time.
  Report will take 10-15 days.