Clinical Genetics
Application of Our Service
We offer conventional cytogenetic testing and “state-of-the-art” cytogenetic testing to health care providers.
Conventional cytogenetic techniques greatest strength is its ability to detect chromosomal abnormalities at low frequencies.
G-Banded Karyotype Analysis is the primary tool
What is Cytogenetics?
Cytogenetics is an exciting, dynamic field of study which analyzes the number and the structure of human chromosomes.
What is Karyotyping?
Karyotype analysis is a laboratory technique, where the chromosomes from one cell are visualized under a microscope to investigate the total number and structure of the chromosomes.
Spectral Karyotyping (SKY)
Karyotype Analysis Will:
Organize all chromosomes by homology, size and shape.
Provide an overview of the whole genome.
Species identification
Index of genomic stability
Validation of normal diploid karyotypes
Numerical chromosomal abnormalities
Monoploidy, polyploidy, etc.
Monosomy, trisomy, etc.
Structural chromosomal rearrangements like Deletion, Duplications, Translocations, Inversions, Ring chromosomes, Marker chromosomes & Isochromosome
Clinical Indications for Karyotype Analysis
Whenever a clinician suspects a patients’ condition / disease is due to a chromosomal abnormality, he/she should consider a cytogenetic analysis.
Significant family history of:
Chromosome rearrangements
Mental retardation of possible chromosomal origin where it is not possible to study the affected individual
Couple with:
Chromosome abnormality or unusual variant detected at prenatal diagnosis
Unbalanced chromosome abnormality in the products of conception
Child with a chromosome abnormality or unusual variant
Infertility of unknown etiology
Patient with:
Primary or secondary amenorrhea or premature menopause.
Sperm abnormalities – eg. azoospermia or severe oligospermia.
Clinically significant abnormal growth – eg. short stature, excessive growth, microcephaly, macrocephaly
Ambiguous genitalia
Abnormal clinical phenotype or dysmorphism
Multiple congenital abnormalities
Mental retardation or developmental delay
Suspected deletion/ microdeletion/ duplication syndrome
Increased risk for a microdeletion syndrome due to a positive family history
Clinical features of a chromosome instability syndrome, including isolated haematologic findings
Monitoring after bone marrow transplantation
A malformed fetus or stillbirth of unknown etiology
Third and subsequent consecutive miscarriage(s) or products of conception from the fetus
How to collect the specimens?
| Sno | Sample type | Collection tube | Quantity | Remarks |
|---|---|---|---|---|
| 1 | Peripheral Blood [adult] | sodium heparin [Green top] | 4 – 5 ml | Ensure that sample is NOT CLOTTED |
| 2 | Peripheral Blood [infant] | sodium heparin [Green top] | 2 – 3 ml | Ensure that sample is NOT CLOTTED |
| 3 | Fetal Blood | sodium heparin [Green top] | 2 – 3 ml | Ensure that sample is NOT CLOTTED |
| 4 | Cord Blood | sodium heparin [Green top] | 2 – 3 ml | Ensure that sample is NOT CLOTTED |
Turn Around Time (TAT)
Blood Karyotyping Test Result Turn Around Time (TAT) 12-15 days
Note:
| 1 | Sample must be collected in a sterile form (devoid of contamination) and to be packed in appropriate logistic containers (do not freeze the sample). Also do note that contaminated or frozen blood samples will not be processed further and a repeat sampling must be done accordingly. |
|---|---|
| 2 | Sample must be clearly labeled with at least two patient identifiers such as patient name and birth date. |
| 3 | Each specimen must be accompanied by doctor’s requisition form with the following information: First and last name, birth date, gender, physician’s name & contact number, originating hospital or laboratory, clinical indication (if possible with pedigree) and tests ordered, and date of collection and time. |