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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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The disorder affects in different parts of the body, mostly affecting the heart, kidney, mouth, brain along with the immune and endocrine system leading to multiple deformities.
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How premarital genetic testing helped a young consagenous couple detect a three significant genetic mutation and plan for their future family.
 
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Genetic testing helped in identifying clinically relevant mutation that made her resistant to Imatinib and Nilotinib at a much early stage before the disease progressed
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Genetic testing helped in identifying mutation in FANCG gene. Testing family helped in understanding the inheritance pattern and choosing the right treatment, Bone marrow transplant.
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Six members of a family diagnosed with Familial Adenomatous Polyposis (FAP), an inherited disorder in Gujarat.
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Genetic testing helped in identifying clinically relevant mutations in FLT3 and NPM1 genes that guided in the patient's treatment regimen
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BRCA testing helped a woman understand the risk of hereditary breast and ovarian cancer running in the family. The findings from test result also helped the treatment course
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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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Comprehensive screening of the complete HBB Gene by two different methods helped identify the genetic defect in both parents
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Genetic testing reveals multiple actionable mutations impacting the course of treatment in a patient with lung cancer
 
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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.