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Our Services

  • 01.

    Genetic Counselling & Rare Disease Diagnosis

    GeneKonnect provides expert genetic counselling and comprehensive evaluation for children and adults with suspected inherited or rare genetic disorders. Services include pre-test and post-test genetic counselling, guidance on genetic testing, interpretation of various genetic test reports and pre-natal testing.

  • 02.

    Inborn Errors of Metabolism Diagnosis & Management

    GeneKonnect provides expert diagnosis and long-term management of Inborn Errors of Metabolism (IEM), including organic acidemias, urea cycle disorders, fatty acid oxidation disorders, mitochondrial disorders, and lysosomal disorders. Services include evaluation and genetic diagnosis, guidance on available therapies, emergency management planning, and long-term follow-up to help prevent complications and optimize clinical outcomes.

  • 03.

    Skeletal Dysplasia Evaluation & Management

    GeneKonnect provides expert evaluation and diagnosis of skeletal dysplasia and short stature in children and adults. Services include clinical assessment, radiological review, genetic testing guidance, and personalized management for conditions such as Achondroplasia, Osteogenesis Imperfecta, Multiple Epiphyseal Dysplasia, and Metaphyseal Dysplasia, with comprehensive genetic counselling, family risk assessment, and long-term follow-up.

  • 04.

    Prenatal & Foetal Genetics

    GeneKonnect offers expert prenatal and foetal genetics consultation for families requiring genetic risk assessment, counselling, and testing during pregnancy. Services include evaluation of abnormal NT scans, structural anomalies, positive NIPT results, guidance on CVS and amniocentesis, carrier screening, and interpretation of prenatal genetic tests. Personalized counselling helps parents understand results, recurrence risks, and informed reproductive decisions.

  • 05.

    Hereditary Cancer Genetics & Risk Assessment

    GeneKonnect provides expert evaluation and genetic counselling for hereditary cancer syndromes, including BRCA-related hereditary breast and ovarian cancer, Lynch syndrome, Familial Adenomatous Polyposis (FAP), Li-Fraumeni syndrome, and MEN syndromes. Services include family history assessment, genetic testing guidance, risk estimation, result interpretation, surveillance recommendations, and counselling for at-risk individuals and family members.

  • 06.

    Infertility & Pregnancy Loss Evaluation

    GeneKonnect offers expert genetic evaluation and counselling for infertility and pregnancy loss, helping identify underlying inherited causes of male infertility, female infertility, balanced translocations, and repeated miscarriages. Services include family history assessment, genetic testing guidance, reproductive risk estimation, PGT (Preimplantation Genetic Testing) counselling, and personalized recommendations to support informed family planning and future pregnancies.

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