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List of Molecular Genetic Tests

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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

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