Institute of Human Genetics

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Cytogenetics 

Indications

  • Family with abnormal child
  • Family with repeated fetal loss
  • Previous family history of dysmorphic / abnormal child
  • Pregnancy with Fetal ascitis / Non-immune hydrops
  • Death of children due to respiratory / cardiac problem
  • Children with Dysmorphic features
  • Mental Retardation
  • Leukemia
  • Others

Investigation List


Sr. No.

Test

Sample type

Collection type

Turn Around Time

1

Blood chromosome analysis

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

2-3 weeks

2

Chromosomes / Karyotyping of couple

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

2-3 weeks

3

Blood Lymphocyte Culture with Higher Resolution

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

2-3 weeks

4

Bone Marrow culture for Cancer

Bone Marrow

In collection medium (2 ml)

1 week

5

Chromosomes/Karyotyping Study from Chorionic Villus [Cell Culture]

CVS

Sterile container containing Transport medium/Normal Saline (50 mg)

4 weeks

6

Chromosomes/Karyotyping Study from Amniotic fluid [Cell Culture]

Amniotic Fluid

Sterile Container (20-30 ml)

2-3 weeks

7

Amniotic fluid cell culture + 5 probes

Amniotic Fluid

Sterile Container (20-30 ml)

2-3 weeks

8

Chromosome/Kartyotyping Cord Blood (Prenatal)

Cord Blood

Sodium Heparin sterile vaccute (2-4 ml)

2 weeks

9

Chromosomes/Karyotyping Study from abortus material/POC /Cord blood [Cell Culture]

Chorionic Villus

Sterile container containing Transport medium/normal saline and Sodium Heparin sterile vaccute for Cord blood  (30 mg)

2-3 weeks

10

Chromosome Breakage Syndrome

Bloom syndrome

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

4 weeks

Fanconi Anemia

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

4 weeks

11

Fragile X chromosome Study

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

4 weeks

12

Fibroblasts culture for study

Skin tissue

Sterile container containing Normal Saline(20 mg)

3-4 weeks

13

Fragile X Study (Prenatal)

Amniotic Fluid, Chorionic Villus and Cord Blood

AF: Sterile container (20 ml)

CV: Sterile container with transport media (30 mg)

CB: Sodium Heparin vaccute (4 ml)

4 weeks

MOLECULAR CYTOGENETICS

Sr. No.

Test

Sample Type

Collection Type

Turn Around Time

Micro Array

1

Array-CGH study for cryptic quantitative genomic imbalances [60K]

Peripheral Blood

K3 EDTA vaccute (5 ml)

6-8 weeks

2

aCGH results confirmation/inheritance by Q-PCR [Couple]

Peripheral Blood

K3 EDTA vaccute (5 ml)

6-8 weeks

FISH Study

3

FISH study in Amniotic fluid (13, 18, 21, X, Y)

Amniotic fluid

Sterile container (20-30 ml)

1 week

4

Amniotic fluid cell culture + 5 probes

Amniotic fluid

Sterile container (20-30 ml)

1 week

5

FISH #13/21

Peripheral Blood/Amniotic fluid

Sodium Heparin sterile vaccute (4 ml)

1 week

6

FISH #16

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

1 week

7

FISH #X/Y

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

1 week

8

FISH #X/Y/18

Peripheral Blood

Sodium Heparin sterile vaccute (4 ml)

1 week

9

FISH study in Abortus (Chromosome 13, 16, 18, 21, X, Y)

POC

POC in transport medium/sterile container with normal saline (30 mg)

1 week

10

BCR/ABL Translocation Dual color dual fusion

Peripheral Blood/Bone marrow

Sodium Heparin sterile vacutte/transport medium for bone marrow (4 ml)

1 week

11

XX/XY ratio: for sex mismatched bone marrow transplant

Peripheral Blood

Sodium Heparin sterile vaccute

1 week

Micro-deletion study

12

DiGeorge syndrome

(Tuple-1)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

13

Prader- Willi syndrome

(SNRPN)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

14

Angelman syndrome

 (UBE3A)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

15

Williams–Beuren syndrome

(ELS)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

16

Wolf–Hirschhorn syndrome (WHSC1)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

17

Miller-Dicker Lissencephaly syndrome (LIS)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

18

Smith Magenis syndrome

(RAI1)

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week

19

15q duplication in Autism

Peripheral Blood

Sodium Heparin sterile vacutte (4 ml)

1 week