KARYOTYPE (Chromosome Analysis)

Karyotype or Chromosome analysis is a test that evaluated the number and structure of a person’s chromosome in order to detect abnormalities. Chromosome are thread like structures within each nucleus and contain the body’s genetic blueprint. Each chromosome contains thousands of genes in specific locations. These genes are responsible for person’s inherited physical characteristics and they have a profound impact on growth, development and function.
Humans have 46 chromosomes, present as 23 pairs. Twenty-two pairs are found in both genders (autosomes), and one pair (sex chromosome) is present as either XY (in males) or XX (in females). Normally. All cell in the body that have a nucleus will contain a complete set of the same chromosomes, except for the reproductive cells (eggs & sperm), which contain a half set of 23. This half set is the genetic contribution that will be passed on to a child. At conception, half set from each patent combine to form a new set of 46 chromosomes in the developing fetus. A karyotype test examines a person’s chromosome to determine if the right number is present and to determine if each chromosome appears normal.


When is Karyotype (Chromosome Analysis) test requested.?

     
  1. A chromosome analysis may be ordered to determine the cause of baby’s birth defect for suspected congenital (physical abnormalities) from birth for e.g. Down’s syndrome.
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  2. In unborn fetus during course of pregnancy suspected of having some chromosomal abnormalities for e.g. Downs, Patau, Edwards syndrome.
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  3. Couple karyotype with history of miscarriages (recurrent pregnancy loss) to detect balanced translocations to plan for future pregnancy.
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  4. In couples undergoing infertility or preimplantation genetic testing (PGT-A) and suspected for chromosome abnormalities such a Klienefelter syndrome (47, XXY) in males or Turner Syndrome (45, X) in women.
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  5. In males with abnormal semen parameters in case of very low sperm count particularly in cases of oligozoopsermia or severe oligozoospermia (<10 million/ml)
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  6. Confirm sex chromosomes abnormalities in cases of ambiguous genitalia or discordant sex.
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  7. In diagnosis and management of blood cancer (leukemia) due to acquired chromosome abnormalities for e.g. chronic myeloid leukemia (CML).

Tests Summary (Karyotype)

Test Code Test Name Specimen Requirement Sample Type Specimen Stability Transport Condition Cost (INR) Turn Around Time (TAT) Reports
KPB001 Karyotype- Peripheral Blood (Adult) 2-4 ml Blood in Na-Heparin (Green Top) vial Peripheral Blood sample Within 48-72 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 2500 12-15 days
KPB002 Karyotype- Postnatal Pediatric (Child) 2-4 ml Blood in Na-Heparin (Green Top) vial Peripheral Blood sample Within 48-72 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 2500 12-15 days
KPB003 Karyotype- Ambiguous Genetilia 2-4 ml Blood in Na-Heparin (Green Top) vial Peripheral Blood sample Within 48-72 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 2500 12-15 days
KPB004 Karyotype- Couple (Husband & Wife) 2-4 ml Blood in Na-Heparin (Green Top) vial Peripheral Blood sample Within 48-72 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 4500 12-15 days
KPB005 Karyotype- Postnatal Cord Blood 2-4 ml Blood in Na-Heparin (Green Top) vial Peripheral Blood sample Within 48-72 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 3000 12-15 days
KBM006 Karyotype- Bone Marrow 1-2 ml Bone Marrow Aspirate in Na-Heparin (Green Top) vial Bone Marrow Aspirate Within 24 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 3500 12-15 days
KPOC07 Karyotype- Product of Conception (POC) Placental/ fetal tissue (POC) in normal saline or transport medium (request lab) in sterile container 25-50 mg placental tissue/ villus of fetal origin or skin (3 mm) with no maternal tissue contamination Within 24 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 6000 07-15 days
KAF008* Karyotype- Amniotic Fluid Amniotic fluid in sterile screw capped (15 ml) centrifuge tube 10-12 ml Amniotic fluid Within 24 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 8000 15-21 days
KCVS09* Karyotype- Chorionic Villus Sampling (CVS) CVS / fetal tissue in transport medium (request lab) in sterile screw capped (15 ml) centrifuge tube 20-40 mg placental tissue/ villus of fetal origin with no maternal tissue contamination Within 24 hours from time of collection Ambient Temperature with cool pack (2-8˚C) 8000 15-21 days

As a company we believe in philosophy of adoption of advanced genetics technologies with clinical annotation (medical knowledge) that can improve clinical outcomes for patients. This approach has already been proved beneficial for patient’s undergoing diagnosis.

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