Karyotyping |Close it

Karyotype gives a complete number and appearance of chromosomes in eukaryotic organisms especially clinical samples from humans, in respect to their length, position of centromere, banding patterns etc. Different types of tissue specimens are used to identify abnormalities in metaphase chromosmes of humans that play a major role in genetical disorders like down’s syndrome, turners syndrome etc. different tissue specimen include
1) Peripheral blood
2) Cord blood
3) Bone marrow
4) Amniotic fluid
5) chorionic villi sampling
6) Fetal products
Detection of these chromoasomal abnormlities is important in identifying a couple, suffering from infertility , to identify abnormalities in suspected new born. Karyotyping also plays an important role in prenatal diagnosis to manage baby health , outcome of pregnancy, future status of the baby to continue or discontinue, to better understand regarding the outcome of future pregnancy.

PCR/Sequencer |Close it

Y-chromosome microdeletions:
Microdeletions of the Y chromosome are a recently discovered cause of spermatogenetic failure resulting in male infertility. The molecular diagnosis of deletions has become an important diagnostic test in the workup of male infertility. The portion of the male –specific region of the Y chromosome, comprising 95% of the Y chromosome and flanked by pseudoautosomal regions, which is affected by deletions has been classically subdivided into three regions called AZFa, AZFb, AZFc respectively. Microdeletions are relatively frequent among infertile men. Azoospermic men have a higher incidence of microdeletions than oligozoospermic men.
Beta thalassemia detection:
Beta thalassemia is a genetic disorder resulting in the defective production of hemoglobin, caused by mutations in the beta globin gene. There are approximately 200 mutations found to be responsible for causing beta thalassemia. Individuals heterozygous for the mutation have only one copy of mutant gene and other copy with a normal gene and are referred to as thalassemia minor. Individuals homozygous for the mutation have mutation in both the genes, and are referred to as thalassemia major. ARMS PCR is performed to detect the below mentioned mutations and as well as to detect whether, the patient is thalassemia minor or major.
Sickle cell anemia
Mycobacterium Tuberculosis
Deafness screening:
Hearing impairment is the most common sensory disorder, present in 1 of every 500 newborns. Hearing loss can be caused due to environmental or genetic factors. Genetic hearing loss is hereditary and is monogenic. To date, 46 genes have been identified as casually related to nonsyndromic HL. Mutations in these genes do not occur at the same frequencies across ethnicities. The most causative genes are the ones which express the connexin protein, a structurally related transmembrane protein, which play an important role in intracellular communication. There are different types of connexins of which three have been screened in this test, GJB2, GJB3, GJB6. Sequencing the coding region of these genes helps to identify mutations that cause abnormal protein synthesis.
Aneuploidy screening:
The method employed by TrueScience™ Aneuploidy Kit uses the Quantitative Fluorescence-Polymerase Chain Reaction (QF-PCR) technique. Using PCR amplification, fluorescent dye labelled primers target highly polymorphic regions of DNA sequence called short tandem repeats (STRs) that are located on the chromosomes of interest. A normal diploid sample has the normal complement of two of each of the somatic chromosomes, thus two alleles of a chromosome specific STR are determined by the QF-PCR technique as two peaks in a 1:1 ratio. The observation of an extra STR allele as either a three-peak pattern in a 1:1:1 ratio or a two-peak pattern in 2:1 peak ratio is diagnostic of the presence of an additional sequence which in turn may represent an additional chromosome, as in the case of a trisomy.