Molecular Diagnostics

Medical Genetics & DNA Testing

State-of-the-art cytogenetics and molecular DNA profiling. Enabling early detection of hereditary conditions, pre-conceptional planning, prenatal insights, and personalized precision medicine.

NGS
Next-Gen Sequencing Support
NIPT
Non-Invasive Prenatal Testing
100%
Confidential Genetic Data
Carrier
Pre-Marital & Prenatal Panels
Genetics Testing Services at Medchikitsa
Personalized Molecular Medicine Unlocking Genomic Insights
Molecular & Genomic Health

Unlocking Answers in Your Genetic Blueprint

Medical genetics is transforming clinical decisions by identifying the hereditary roots of complex diseases before symptoms develop. At Medchikitsa, our molecular genetics wing offers specialized cytogenetic analysis, karyotyping, and advanced sequencing panels for couples, expectant mothers, and high-risk cancer families.

Whether investigating recurrent pregnancy loss, assessing hereditary breast or ovarian cancer risk, or undergoing non-invasive prenatal screening, our dedicated team adheres to strict ethical guidelines, strict confidentiality, and certified laboratory protocols.

  • Constitutional Karyotyping: High-resolution chromosomal band analysis for Down syndrome, Turner syndrome, and translocation carriers.
  • NIPT (Cell-Free Fetal DNA): Safe maternal blood screen from 10 weeks of pregnancy for chromosomal aneuploidies (Trisomy 21, 18, 13).
  • Hereditary Cancer Panels: BRCA1 & BRCA2 mutation detection guiding prophylactic care and personalized therapeutics.
  • Couple Carrier Screening: Pre-marital and pre-conceptional evaluation for Thalassemia minor and Spinal Muscular Atrophy.
Dr. Vijayalaxmi S. Patil
Molecular Genetics Consultant

Dr. Vijayalaxmi S. Patil

MBBS, MD - Cytogenetics & Molecular Diagnostics Lead

Confidentiality First: All genetic data, family pedigrees, and molecular reports are safeguarded under strict medical confidentiality protocols.

Diagnostic Menu

Key Genetics & Molecular Tests

Comprehensive genetic screens and molecular assays providing definitive clarity for family health and therapy planning.

Chromosomal Karyotyping

Cytogenetics

G-banded peripheral blood karyotyping diagnosing numeric and structural chromosome aberrations, recurrent miscarriages, and amenorrhea.

Sodium Heparin Blood 10 - 14 Days

NIPT (Non-Invasive Prenatal Test)

Prenatal Screen

Analyzes cell-free fetal DNA from mother's blood with >99% sensitivity for Trisomy 21 (Down), 18 (Edwards), and 13 (Patau) without invasive risk.

Streck BCT Tube 7 - 10 Days

Hereditary Breast & Ovarian (BRCA 1 & 2)

Oncogenomics

Next-generation sequencing for pathogenic germline mutations in BRCA1 and BRCA2 genes in individuals with strong family history of cancer.

EDTA Blood 14 - 21 Days

Thalassemia HPLC & Mutation Screening

Hematogenomics

High-Performance Liquid Chromatography (HPLC) for HbA2 alongside beta-globin gene mutation tests for Thalassemia minor carrier detection.

EDTA Whole Blood 3 - 5 Days

Recurrent Pregnancy Loss (RPL) Panel

Reproductive

Couples karyotyping combined with thrombophilia markers (Factor V Leiden, Prothrombin gene, MTHFR mutation) for repeated miscarriages.

Blood (Heparin + Citrate) 10 - 14 Days

Carrier Screening Panel (Expanded)

Family Planning

Multi-gene carrier test for autosomal recessive inherited conditions (SMA, Cystic Fibrosis, Duchenne Muscular Dystrophy) before marriage or IVF.

EDTA Blood 2 - 3 Weeks

Questions about interpreting your genetic test or need specialist pre-test counseling?

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Patient FAQ

Genetics Testing Common Questions

While traditional biochemical screening (Double/Triple marker) has a detection rate of ~80–85% with a 5% false-positive rate, NIPT directly examines cell-free fetal DNA circulating in maternal blood, delivering >99% accuracy for Down syndrome with a false positive rate under 0.1%.

No, your DNA sequence does not change based on what you eat or drink, so fasting is not required for DNA or karyotyping tests. However, informed consent and a brief family pedigree questionnaire are completed prior to sample collection.

Carrier screening is especially recommended for consanguineous marriages (marriages between blood relatives), couples with a family history of congenital disorders, or any couple planning a pregnancy who wish to know if they carry silent mutations for conditions like Thalassemia or SMA.

Explore Medical Genetics Services

Find clarity, protect your family's future, and access cutting-edge molecular diagnostics at Medchikitsa Diagnostic Centre.