Dr. Kanika Singh Reviews

A 28-year-old street food vendor from Old Delhi presented with unexplained muscle weakness and bronze skin pigmentation. Dr. Singh identified Wilson's disease through genetic testing, discovering a novel ATP7B mutation. Treatment with zinc acetate and dietary changes allowed complete recovery within 6 months, transforming his ability to work.

A 45-year-old corporate lawyer of South Indian descent sought consultation for recurrent miscarriages. Whole exome sequencing revealed a balanced translocation in both partners. Through preimplantation genetic diagnosis, they successfully conceived twins, with Dr. Singh coordinating care across three trimesters.

An 8-year-old tribal girl from Jharkhand exhibited progressive vision loss and developmental delay. Dr. Singh diagnosed Batten disease through genetic analysis, arranging palliative care and connecting the family with a specialized support network while researching experimental therapies.

A 62-year-old retired schoolteacher presented with early-onset dementia and unusual hand tremors. Genetic testing confirmed Huntington's disease, allowing Dr. Singh to provide predictive testing for adult children and implement comprehensive neuroprotective strategies.

A 19-year-old college athlete from an affluent family experienced sudden cardiac arrest during training. Dr. Singh identified Long QT syndrome through genetic screening, leading to ICD implantation and genetic counseling for 12 family members across three generations.

A 35-year-old single mother working as a domestic helper brought her 4-year-old son with unusual facial features and growth delays. Dr. Singh diagnosed Cornelia de Lange syndrome, arranging early intervention therapies and securing charitable funding for ongoing care.

A 50-year-old farmer from Punjab with multiple benign tumors underwent genetic testing revealing neurofibromatosis type 2. Dr. Singh coordinated with neurosurgery for tumor management while providing genetic education to his rural community.

A 27-year-old software engineer of consanguineous parentage presented with infertility. Karyotyping revealed Klinefelter syndrome (XXY), with Dr. Singh managing testosterone therapy and facilitating sperm retrieval for future family planning.

A 6-month-old infant from a refugee family showed failure to thrive and recurrent infections. Dr. Singh diagnosed Severe Combined Immunodeficiency through genetic testing, enabling successful bone marrow transplant from a matched sibling donor.

A 41-year-old banker with a family history of early cancer deaths sought predictive testing. BRCA2 mutation identification led Dr. Singh to coordinate risk-reducing surgeries and establish a surveillance protocol for high-risk relatives.

A 14-year-old boy from an upper-middle-class family presented with progressive muscle wasting. Dr. Singh confirmed Duchenne muscular dystrophy through genetic analysis, initiating steroid therapy and connecting the family with clinical trial opportunities.

A 32-year-old pregnant woman with abnormal ultrasound findings underwent amniocentesis. Dr. Singh diagnosed Trisomy 18, providing compassionate counseling and coordinating palliative care planning with the neonatal team.

A 58-year-old restaurant owner of Chinese-Indian heritage presented with unusual bleeding tendencies. Genetic testing revealed Von Willebrand disease type 2N, allowing Dr. Singh to customize treatment before elective surgery.

A 22-year-old art student with joint hypermobility and chronic pain received Ehlers-Danlos syndrome diagnosis through collagen gene testing. Dr. Singh developed a multidisciplinary pain management plan incorporating physical therapy and lifestyle modifications.

A 3-year-old girl from a remote village presented with severe photosensitivity and neurological symptoms. Dr. Singh diagnosed Xeroderma Pigmentosum, creating a comprehensive sun protection protocol and arranging specialized educational accommodations.