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Cytogenetic Services

Code Test name Sample type Collection and transportation Report in
CYTO1 Blood Karyotyping or Chromosomal analysis or Cytogenetic testing Peripheral blood 3ml of peripheral blood in Sodium heparin vacutainer (Green top). Transport at room temperature within 48hrs 10-12 days
CYTO2 High resolution banding karyotyping Peripheral blood 3ml of peripheral blood in Sodium heparin vacutainer (Green top). Transport at room temperature within 48hrs 10-12 days
CYTO3 Products of conception karyotyping/chromosomal analysis/Cytogenetic testing Products of conception (aborted material), fetal skin, fetal tissue, placenta, cord Products or tissue in sterile container with normal saline. Transport at room temperature within 48hrs 2 weeks
CYTO4 Fetal Cord/Heart blood Karyotyping/Chromosomal analysis/Cytogenetic testing (Post delivery/abortion) Fetal cord blood or heart blood 1-2ml of fetal cord/heart blood from he fetus after delivery/abortion in sodium heparin (Green top) vacutainer. Transport at room temperature within 48hrs 10-12 days
CYTO5 Prenatal Cord blood Karyotyping/Chromosomal analysis/Cytogenetic testing Cord Blood 1-2ml of cord blood by prenatal cordocentesis in sodium heparin (Green top) Vacutainer at 18 weeks or above gestation. Transport at room temperature within 48hrs 1 week
CYTO6 Prenatal Amniotic fluid Karyotyping/Chromosomal analysis/Cytogenetic testing Amniotic Fluid Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation. Transport at room temperature within 48hrs 2 weeks
CYTO7 Prenatal Chorionic villus sample (CVS) Karyotyping/Chromosomal analysis/Cytogenetic testing Chorionic Villus biopsy/sample Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation. Transport at room temperature within 48hrs 2 weeks

Related services

Service Code Details
PAT01 POC histopathology/Fetal autopsy On request
PAT02 TORCH profile On request
PAT03 Antiphospholipid panel OR Anti cardiolipin antibody On request
PRE01 Chorionic Villus Sampling Sampling of Chorionic villus by Ultrasound guided procedure, by Appointment
PRE02 Amniocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
PRE03 Cordocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
GCG01 Genetic Counseling Pre and post test genetic counseling for ObGyn, Pediatric and cancer cases, by Appointment

Molecular Genetics Services

Code Test name Sample type Collection and transportation Report in
MOL01 beta Thalassemia mutation testing Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOLO2 beta Thalassemia prenatal diagnosis Chorionic villus sample/biopsy, amniotic fluid and cord blood Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation OR Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation OR Ultrasound guided sterile collection of 1-2ml cord blood by prenatal cordocentesis. Transport at room temperature within 48hrs 1 week
MOLO3 Alpha Thalassemia mutation testing Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOLO4 Alpha Thalassemia prenatal diagnosis Chorionic villus sample/biopsy, amniotic fluid and cord blood Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation OR Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation OR Ultrasound guided sterile collection of 1-2ml cord blood by prenatal cordocentesis. Transport at room temperature within 48hrs 1-2 weeks (depending on sample type)
MOLO5 Haemophilia A mutation testing Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOLO6 Haemophilia A prenatal diagnosis Chorionic villus sample/biopsy, amniotic fluid and cord blood Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation OR Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation OR Ultrasound guided sterile collection of 1-2ml cord blood by prenatal cordocentesis. Transport at room temperature within 48hrs 1-2 weeks (depending on the sample type)
MOLO7 Duchene Muscular Dystrophy (DMD) mutation testing Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOLO8 Duchene Muscular Dystrophy (DMD) prenatal diagnosis Chorionic villus sample/biopsy, amniotic fluid and cord blood Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation OR Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation OR Ultrasound guided sterile collection of 1-2 ml cord blood by prenatal cordocentesis. Transport at room temperature within 48hrs 1-2 weeks (depending on the sample type)
MOLO9 Fragile X mutation testing Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOL010 Fragile X prenatal diagnosis Chorionic villus sample/biopsy, amniotic fluid and cord blood Ultrasound guided sterile collection of small sample of CVS in normal saline or Genetech supplied media at 11-13 weeks of gestation OR Ultrasound guided sterile collection of 20-30ml of amniotic fluid at 16 weeks of gestation OR Ultrasound guided sterile collection of 1-2ml cord blood by prenatal cordocentesis. Transport at room temperature within 48hrs 1-2 weeks (depending on the sample type)
MOL011 SRY gene study Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
MOL012 Y-chromosome micro deletions Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week

Related services

Service Code Details
MOL013 Mutation analysis of other single gene disorders like Achodroplasia, Albinism, Spino-muscular atrophy, Factor V mutations On request (International collaboration as and when required)
MOL014 Prenatal diagnosis of other single gene disorders like Achodroplasia, Albinism, Spino-muscular atrophy, Factor V mutations On request (International collaboration as and when required)
MOL015 Biochemical and ancillary testing required for all single gene disorders On request (International collaboration as and when required)
PRE01 Chorionic Villus Sampling Sampling of Chorionic villus by Ultrasound guided procedure, by Appointment
PRE02 Amniocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
PRE03 Cordocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
GCG01 Genetic Counseling Pre and post test genetic counseling for ObGyn, Pediatric and cancer cases, by Appointment

Oncology Services

Code Test name Sample type Collection and transportation Report in
ONC01 Cancer Blood Karyotyping/Chromosomal analysis/Cytogenetic testing Peripheral Blood 3ml of peripheral blood in Sodium heparin vacutainer (Green top). Transport at room temperature within 48hrs 10-12 days
ONCO2 Bone marrow biopsy/aspirate Chorionic villus sample/biopsy, amniotic fluid and cord blood 1-3ml of bone marrow tap in Sodium heparin vacutainer (Green top). Transport at room temperature within 48hrs 10-12 days
ONCO3 Tumor karyotyping/chromosomal analysis/Cytogenetic testing Products of conception (aborted material), fetal skin, fetal tissue, placenta, cord Tumor/Tissue in sterile container with normal saline. Transport at room temperature within 48hrs 2 weeks
ONCO4 Chromosomal breakage study/Chromosomal stress test Peripheral blood or Bone marrow biopsy/aspirate 3ml of peripheral blood in Sodium heparin vacutainer (Green top) OR 1-3ml of bone marrow tap in Sodium heparin vacutainer (Green top). Transport at room temperature within 48hrs 10-12 days
ONCO5 bcr/abl (RT-PCR) Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
ONCO6 bcr/abl (Real Time Quantitative RT-PCR) Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
ONCO7 PML/RARa (RT-PCR) Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week
ONCO8 PML/RARa (Real Time Quantitative RT-PCR) Peripheral Blood 4ml of peripheral blood in EDTA vacutainer (Purple top). Transport at room temperature within 48hrs 1 week

Related services

Service Code Details
ONC09 Mutation analysis of other onco genes On request
ONC010 Flow cytometry for leukemia and lymphomas On request
GCG01 Genetic Counseling Pre and post test genetic counseling for ObGyn, Pediatric and cancer cases, by Appointment

Prenatal Screening Services

Code Test name Sample type Collection and transportation Report in
PSC01 First trimester maternal serum screening (PAPP and beta hcg) Peripheral blood at 11 weeks of gestation 5ml of peripheral blood in Serum separation tube (Red top Vacutainer). Transport at room temperature within 48hrs 1 week
PSCO2 Triple Screen test/Second trimester maternal serum screening (AFP, beta hcg and UE3) Peripheral blood at 16 weeks of gestation 5ml of peripheral blood in Serum separation tube (Red top Vacutainer). Transport at room temperature within 48hrs 1 week

Related services

Service Code Details
PSC03 First trimester Nuchal thickness marker Fetal marker by Ultrasound for risk estimation in first trimester screening, by Appointment
PRE01 Chorionic Villus Sampling Sampling of Chorionic villus by Ultrasound guided procedure, by Appointment
PRE02 Amniocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
PRE03 Cordocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
GCG01 Genetic Counseling Pre and post test genetic counseling for ObGyn, Pediatric and cancer cases, by Appointment

Neonatal Screening Services

Code Test name Sample type Collection and transportation Report in
NSC01 Routine neonatal screening (Hypothyroidism, Galactosemia, Phenylketonuria, Congenital adrenal hyperplasia, G6PD) Blood spots Heel prick blood spots on filter paper. Transport at room temperature within 48hrs 1 week
NSCO2 Qualitative urine metabolic screening Urine 10 ml of first morning urine in a plastic container. Transport frozen within 24 hrs. 1 week
NSCO3 Qualitative Amino acid profile Plasma 2ml of plasma. Transport at room temperature within 48hrs 1 weeks
NSCO4 Screening by Tandem Mass Spectrometry 5 blood spots Heel prick blood spots on filter paper. Transport at room temperature within 48hrs 1 week

Related services

Service Code Details
NSC05 Testing for rare metabolic disorders On request
NSC06 Mutation analysis of metabolic disorders On request (International collaboration as and when required)
NSC07 Prenatal diagnosis of metabolic disorders On request (International collaboration as and when required)
PRE01 Chorionic Villus Sampling Sampling of Chorionic villus by Ultrasound guided procedure, by Appointment
PRE02 Amniocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
PRE03 Cordocentesis Sampling of Cord blood by Ultrasound guided procedure, by Appointment
GCG01 Genetic Counseling Pre and post test genetic counseling for ObGyn, Pediatric and cancer cases, by Appointment
  
 
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