
Premarital genetic counseling:
example, both the partners are deaf/ mute, or both the partners are blind. Proven or suspected genetic disorder in the proposed partner or his/her family member.Scope and Services offered:
The following conditions are offered Genetic Expertise to delineate any underlying genetic basis. The list is detailed, but is not limited to the conditions mentioned. The patient and the primary physician are guided to speak personally to the Expert in case of a clinical query.Neurological:
Mental retardation, autism, ADHD, learning disability, head size abnormalities (large and small head), epilepsy, balance disorders, psychiatric conditions, floppy baby, neuromuscular disorders, movement disorders, neurocutaneous syndromes, mitochondrial disorders, neurodegenerative conditions, neurometabolic disorders, neuronal migration defects Developmental Pediatrics: Autism, attention deficit hyperactivity disorders, childhood OCD, childhood schizophreniaMetabolic:
Inborn errors of metabolism, lysosomal storage disorder, porphyria, fatty acid oxidation disorder, aminoacidopathy, organic acidemia, metabolic encephalopathy , mitochondrial disorder, urea cycle disorderEndocrinological:
Short stature, failure to thrive, childhood onset diabetes, recurrent pancreatitis, hyperlipidemia, congenital adrenal hyperplasia, abnormal genitalia, monogenic and syndromic obesityCardiovascular:
Congenital heart disease, cardiomyopathy, cardiac conduction defectsNephrogenetics:
Early onset nephrotic syndrome, renal malformations, polycystic kidney, haemolytic uremic syndrome, genetic varieties of renal tubulopathies (renal tubular acidosis, Barrter syndrome), Alport syndromeReproductive genetics:
Unexplained and recurrent pregnancy losses, infertility, premature ovarian failure, consanguineous couple genetic counseling, antenatal fetal malformations, previous affected babyEarly and late onset deafness
Ocular genetics:
Early and late onset vision loss/ blindness, congenital cataracts, microphthalmia, anophthalmia, retinaldegeneration, optic atrophySkeletal system & connective tissue disorders:
Skeletal dysplasia, recurrent fractures, increased and decreased bone density disorders, recurrent joint dislocations, connective tissue abnormalitiesHepatobiliary genetics:
Storage disorders, recurrent jaundice, cholestasis, fulminant liver failureGenodermatosis:
Ichthyosis, epidermolysis bullosa, pigment dilution disorders, cutaneous porphyrias, unusual skin pigmentationHematoncology genetics:
Thalassemia, childhood and adult onset cancers, aplastic anemia, DNA repair disorders, Hemophagocytic lymphohistiocytosisPulmonary disorders:
Cystic fibrosis, storage disorders, genetic susceptibility to mycobacterium tuberculosis, genetic surfactant metabolism disordersBirth defects:
National Health Mission (India) data suggests that approximately seven every 100 babies are born with some birth defect or the other. Some of these defects may be minor, while some may have major implications to the overall wellness of the baby (example: congenital heart defects, neural tube defects, congenital deafness, orofacial clefts, renal anomalies, lissencephaly, ventriculomegaly etc)Dysmorphic facies
Immunodeficiency disorders
Cytogenetic disorders
Family history of a known or suspected Genetic disorder
Genetic counseling
Carrier screening counseling
Prenatal counseling and management:
Couples having an intrauterine baby having a suspected or a proven genetic conditionFor more information and appointment, please write to info@geneticsinindia.com