Gynae & Infertility

BRCA Mutation

NIPT (Non-Invasive Prenatal Tet)

CES (Clinical Exom Sequencing)

WES (Whole Exom Sequencing)

NBS (New Born Screening)

PND for Beta Thalassemia Mutation

CMA (Chromosomal Micro Array)

RPL – Panel

Gynae & Infertility

NON-Invasive Prenatal Test (T21, T13, T18 (+ Other chromosomes)
Non Invasive Screening test for chromosomal aneuploidy of fetus in pregnant woman @ 10 th weeks of gestation. This test should not be considered diagnostic. Maternal whole blood 10 ml in Streck tube is sample type
Chromosome Microarray - All chromosmes. Gain or loss of any chromosme. triploidy of any chromosome.
This enables the detection of aneuploidies, submicroscopic aberrations, and mosaic events. Also, due to the ability to provide genotype information, it can help in the identification of triploidies, and copy neutral events such as absence of heterozygosity and UPD.
BRCA 1 & 2
Breast & Ovarian cancer genetic mutation
WES by NGS followed by Sanger sequencing
Whole Exom Sequencing For Rare Genetic Diagnosis
Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for establishing a definitive molecular diagnosis of individuals with
rare genetic disorders which can allow for:
-Better understanding of the natural history/prognosis
-Targeted management (anticipatory guidance, management changes, specific therapies)
-Predictive testing of at-risk family members
-Testing and exclusion of disease in siblings or other relatives
-Recurrence risk assessment
-Reproductive decision-making
Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays
Karyotyping (Periferal blood/ Amniotic Fluid)
All Chromosome Analyses
To diagnose congenital chromosomal abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
RPL Panel
Repeated Pregnancy Loss
Test helps in identification of possible reason for pregnancy loss.
Y-Chromosome Microdeletion
Yq microdeletions involving some or all of the azoospermic factor (AZF) region are the most frequently identified cause of spermatogenic failure in chromosomally normal men with nonobstructive azoospermia (3%-15%) or severe oligospermia (6%-10%). Among unselected infertile males, the overall frequency of Yq microdeletions is approximately 3%. The relative frequency of Yq microdeletions makes the evaluation for them an important aspect of the diagnostic work up in infertile males, especially those with azoospermia or severe oligospermia. Most cases of Yq microdeletions occur de novo, and due to the consequential infertile phenotype, they are typically not transmitted. However, in cases where assisted reproductive technology (example: testicular sperm extraction followed by intracytoplasmic sperm injection) is used to achieve viable pregnancy, all male offspring born to a microdeletion carrier will carry the deletion and may be infertile. Men testing positive for 1 or more microdeletions who are enrolled in an in vitro fertilization treatment program may wish to consider alternative options to intracytoplasmic sperm injection (eg, donor sperm) and consultation with an experienced reproductive endocrinologist and medical geneticist is recommended. Most Y microdeletions are the result of homologous recombination between repeated sequence blocks. Testing for deletions involves investigating for the presence or absence of markers located within nonpolymorphic regions of the AZF region.
NBS-Right start
New Born Screening
100 + Condition
Prenatal - Beta thalassemia gene sequencin
Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. And fetal diagnosis.

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Sample Collection Center


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