Cytogenetics test involves the analysis of chromosomes for the genetic disorders. This test includes culture of blood Lymphocytes/bone marrow cells, followed by banding and analysis of meta-phase cells.

1. Cytogenetics
Evaluation of chromosomes for numerical and structural aberrations
under the following conditions:
u An individual with congenital abnormalities/ developmental delay/ dysmorphic
features/ ambiguous genitalia/ suspected chromosomal defects/ neurological
disorders/ mental retardation or other conditions indicating genetic disorder.
u Family members of a child with chromosomal defect.
u Hematological malignancies.
u Adult males with delayed or incomplete puberty.
u In case of primary amenorrhoea and secondary amenorrhoea.
u In case of infertility or recurrent abortions.
Karyotyping.
This test includes culture
of blood lymphocytes/ bone marrow cells,
followed by banding and analysis of metaphase cells.
14 working days.
Peripheral venous blood / bone marrow.
3-4 ml sample in green top heparin vacutainer
(a minimum volume of 2 ml in case of very young babies).
Label the vacutainer with patient’s name and specimen type.
The specimen should be shipped at 18-25°C, do not freeze.
It should reach the lab within 24 hours of collection
(preferably at the earliest). In case of delay, sample to be
stored on the door shelf of the refrigerator.
Detailed clinical history, date & time of sample withdrawn
should be specified on test request form*.
Test Purpose :
Methodology :
Testing Procedure :
Turn Around Time :
Specimen Type :
Specimen Volume :
Collection
instructions :
Specimen Transport :
Mandatory
Requirements :
Chromosome Analysis for
Genetic Disorders

2. Corporate Office & Referral Laboratory,
DDRC SRL Towers, Panampilly Nagar, Kochi-682 036
Ph: +91 484 2318222, 2318223
email: info@ddrcsrl.com
www.ddrconline.com, www.ddrclab.com
94977 17850
94977 17842
Note:
A repeat sample may be needed in case of culture failure.
If further testing is required, additional charges may be
incurred.
*Samples shall be rejected if above details are not
provided.
Highlights of the Test:
¤ Karyotypes are described as per the InternationalSystem for
Human Cytogenomic Nomenclature (ISCN)2016 guidelines.
¤ It can detect numerical abnormalitiesin syndromes like:
Trisomy 21 (Down Syndrome) - Pure / Translocation / Mosaic
Trisomy 13 (Patau Syndrome)
Trisomy 18 (Edward Syndrome)
Turner Syndrome (X0)
Klinefelter Syndrome (XXY)
¤ It can also detect Structural abnormalities like:
Translocations, deletions, additions, inversions,
derivative chromosomes, marker chromosomes,
ring chromosomes etc.
¤ Useful in detecting Mosaicism: Condition with
more than one type of cell in an individual.
¤ Helping to prevent the transmission of
abnormal genes to future generations.
¤ Karyotype analysis reveals whole genome
perspective in a single shot.
“I’m unique with my
chromosomes”