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Reproductive Genetics

Medical Genetics

Cancer Genetics

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After a 12 year long struggle with multiple miscarriages, this couple was blessed with a baby. The baby was conceived using IVF in combination with an advanced genetic screening technique called Preimplantation Genetic Screening (PGS).
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This non-consanguineous couple lost a child on the 52nd day after birth. The baby was suspected to be affected with maple syrup urine disorder, an inherited genetic disorder. Carrier screening test for the mutations found in the parents was helpful in preventing the disorder in their second baby.
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This is possibly the first case of a chromosomal abnormality detected by NIPT, not detected by FISH and confirmed by Karyotyping prenatal diagnosis for chromosome X.
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This 19 year-old girl dreamt of a bright future until she was diagnosed with chronic myeloid leukaemia (CML) a year and half ago.
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A 7 year-old boy was referred to a doctor with severe deficiency of red blood cells, white blood cells, and platelets. Genetic testing revealed a mutation in a gene called FANCG that is responsible for DNA repair.
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Six members of a family diagnosed with Familial Adenomatous Polyposis (FAP), an inherited disorder in Gujarat.
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A 64-year-old retired bank official went to a Haematologist and Bone Marrow Transplant (BMT) specialist, complaining of low haemoglobin levels. His blood cells and bone marrow examination revealed that he had developed Acute Myeloid Leukaemia.
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Breast cancer is one of the most common hereditary cancers. A woman is at 12% lifetime risk of developing breast cancer[1]. These chances further worsen if the there is BRCA mutation.
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Genetic testing helps accurate diagnosis of Diamond-Blackfan Anemia as against the suspected Myelodysplastic Syndrome. Based on the accurate diagnosis, the treating clinician could decide on the further course of action.
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Genetic testing provides hope for couple with family history of hearing loss
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This couple experienced the unexpected as their first daughter tragically died in her first year. The needle of suspicion pointed to Lysosomal Storage Disease based on review of the child's photos and videos.
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Creed Pettit, a 9 year boy from Miami, Florida had been slowly going blind since the day he was born. With the help of gene therapy, he is able to see the world again.
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Genetic testing can go a long way in determining the treatment and outcome of a disease in a patient.
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Genetic testing helps in treatment of a two- year-old boy with magnesium deficiency.
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Genetic testing provides hope to the couple with family history of liver failures.