Chromosomal Analysis (Cytogenetic) Tests

Service Highlights:

  • World class cell culture facility for prenatal diagnosis
  • Duplicate cultures for quality assurance
  • Duplicate blind scoring for removing bias and improving accuracy
  • Strong expertise in identification of subtle chromosomal defects
  • Large variety of sample types handled
  • Adherence to strict ISCN standards and nomenclature
  • Results delivered in shortest turnaround time
  • Automated Image analysis with expert review
  • Reports include: High resolution G banded karyotype, Case specific interpretation detailing  prognosis, recurrence risk, management, supported by scientific references.

Clinical indications for Cytogenetic Analysis

Reproductive Conditions

  • Amennorhea
  • Female reproductive development defects
  • Prolonged Infertility
  • Male Infertility Including Sperm Defects
  • Recurrent Pregnancy Losses
  • Fetal Anomalies in ultrasound like Cystic Hygroma, Single umbilical cord, Choriod Plexus, etc.
  • Intra Uterine Growth Retardation
  • Intra Uterine Demise of the Fetus
  • H/o Child with Congenital Defects
  • High Risk Prenatal Screening Results for Aneuploidy

 

Growth & Development Conditions

  • Multiple Congenital Anomalies in New Born
  • Failure to Thrive
  • Growth Retardation
  • Dysmorphology
  • Mental Retardation
  • Delayed Milestones
  • Developmental Delay
  • Cognitive Disabilities
  • Ambiguous Genetalia
  • Chromosomal syndromes like Down, Edward, Patau, Pallister Killan, Turner, Klinefelter, Emanuel
  • Chromosomal instability syndromes like Fanconi, Blooms and Ataxia

List of Chromosomal Analysis (Cytogenetic) Tests

Blood Cytogenetics

S.No Test name TAT (Days)
1 Family Karyotyping (TRIO) 15
2 High Resolution Band Karyotyping 15
3 Parental Karyotyping (DUO) 15
4 Peripheral Blood Karyotying 15
5 Chromosomal Breakage Study 15

Prenatal (AF/CVS) Cytogenetics

S.No Test name TAT*
1 Amniotic Fluid Karyotyping 15
2 High Resolution Band Karyotyping 15
3 Amniotic Fluid Karyotyping for TWINS 15
4 Chorionic Villi Karyotyping 15
5 Prenatal Cord Blood Karyotyping 15

Product of Conception (POC) Cytogenetics

*TAT = Maximum turn around time

S.No Test name TAT*
1 Cord Blood (Products) Karyotyping 15
2 Fetal Heart Blood Karyotyping 15
3 Products of Conception Karyotyping (Aborted Tissue, Placenta, Skin) 15
4 POC Aneuploidy of All Chromosomes (by NGS) 15

Sample Collection:
Blood – 3ml in GREEN TOP (Sodium Heparin) Vacutainer
Amniotic Fluid – 20 to 30ml in Sterile Centrifuge Tube
CVS/POC – Tissue in normal saline in sterile container
Transport within 48 hrs at room temperature