Patient-Centered Genetics Services for All Ages

The Medical Genetics Department at Pragma Medical Institute provides advanced diagnostic services, genetic evaluations, and personalised counselling to individuals, couples, pregnant women, and families with genetic concerns. Our goal is to identify hereditary conditions early, prevent complications, support healthy pregnancies, and provide clarity in complex medical situations. We follow an integrated approach combining clinical genetics, fetal medicine, pediatric expertise, and modern diagnostic tools to offer complete genetic care under one roof.

Our Comprehensive Services

1. Reproductive Genetics & Pregnancy Loss Evaluation

Recurrent miscarriage or infertility can often have a genetic basis. Our specialists perform comprehensive evaluations including:

  • Chromosomal analysis of both partners
  • Genetic screening for recurrent pregnancy loss
  • Evaluation for balanced translocations
  • Guidance on future pregnancy planning

These services help couples understand causes, reduce recurrence risk, and improve pregnancy outcomes.

2. Prenatal Screening & Fetal Medicine Diagnostics

We provide a full range of prenatal genetic evaluations to detect abnormalities at the earliest stages of pregnancy.

• Maternal Serum Screening

  • Dual marker test
  • Triple marker test
  • Quadruple marker test

These screens assess risk for chromosomal disorders such as Down syndrome and neural tube defects.

• Ultrasound Soft Marker Assessment

  • Echogenic intracardiac focus
  • Choroid plexus cyst
  • Renal pyelectasis
  • Increased nuchal fold
  • Nasal bone absence or hypoplasia

• Advanced Diagnostic Procedures

  • NIPT (Non-Invasive Prenatal Testing)
  • Amniocentesis
  • Chorionic Villus Sampling (CVS)
  • Fetal anomaly scans

3. Carrier Screening for Couples Planning Pregnancy

Carrier screening identifies hidden genetic risks in healthy individuals. We screen for:

  • Thalassemia
  • Sickle cell disease
  • Spinal muscular atrophy (SMA)
  • Cystic fibrosis
  • Other hemoglobinopathies and recessive disorders

Especially recommended for couples with family history, consanguinity, or previous affected child.

4. Genetic Counselling for IVF & High-Risk Pregnancies

Our counsellors work closely with reproductive teams to interpret PGT-A / PGT-M results, assess embryo risks, and guide decisions for IVF/ICSI patients and high-risk pregnancies.

5. Pediatric Genetic Evaluation

We diagnose and manage children with suspected genetic or developmental issues. Areas covered include:

• Developmental & Behavioural Concerns

  • Autism spectrum disorder
  • Developmental delay
  • Learning disabilities, speech delay, behavioral abnormalities

• Growth-Related Issues

  • Failure to thrive, short stature
  • Early or delayed puberty

• Structural & Physical Abnormalities

  • Dysmorphic features, birth defects, organ malformations

• Neuromuscular & Metabolic Concerns

  • Floppy infant, recurrent fractures, suspected chromosomal disorders

6. Evaluation for Sudden Unexplained Deaths in the Family

We offer comprehensive family history assessment, genetic risk analysis, and predictive testing to identify hereditary cardiac, metabolic, or neurological conditions and protect at-risk relatives.

7. Thalassemia & Hemoglobinopathy Services

Specialised testing and counselling including trait screening, hemoglobin electrophoresis, genetic confirmation for alpha/beta thalassemia, and family screening.

8. Familial Cancer Genetics & Hereditary Cancer Syndromes

We evaluate patients with family histories suggestive of inherited cancer risk (BRCA1/2, TP53, Lynch genes, etc.), provide testing and counselling, and recommend surveillance and risk-reduction strategies.

9. Genetic Testing & Advanced Diagnostics

  • Chromosomal microarray (CMA)
  • Karyotyping
  • Whole exome sequencing (WES)
  • Targeted gene panels & mitochondrial DNA tests

10. Pre-Conception & Family Planning Genetics

Pre-conception counselling for couples planning pregnancy to reduce inherited risk.

11. Metabolic & Rare Disease Evaluation

Assessment for inborn errors of metabolism, neurometabolic disorders, and rare genetic syndromes with early intervention plans.

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