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 schizophrenia

  Metabolic:

Inborn errors of metabolism, lysosomal storage disorder, porphyria, fatty acid oxidation disorder, aminoacidopathy, organic acidemia, metabolic encephalopathy , mitochondrial disorder, urea cycle disorder

  Endocrinological:

Short stature, failure to thrive, childhood onset diabetes, recurrent pancreatitis, hyperlipidemia, congenital adrenal hyperplasia, abnormal genitalia, monogenic and syndromic obesity

  Cardiovascular:

Congenital heart disease, cardiomyopathy, cardiac conduction defects

  Nephrogenetics:

Early onset nephrotic syndrome, renal malformations, polycystic kidney, haemolytic uremic syndrome, genetic varieties of renal tubulopathies (renal tubular acidosis, Barrter syndrome), Alport syndrome

  Reproductive genetics:

Unexplained and recurrent pregnancy losses, infertility, premature ovarian failure, consanguineous couple genetic counseling, antenatal fetal malformations, previous affected baby

  Early and late onset deafness

  Ocular genetics:

Early and late onset vision loss/ blindness, congenital cataracts, microphthalmia, anophthalmia, retinaldegeneration, optic atrophy

  Skeletal system & connective tissue disorders:

Skeletal dysplasia, recurrent fractures, increased and decreased bone density disorders, recurrent joint dislocations, connective tissue abnormalities

  Hepatobiliary genetics:

Storage disorders, recurrent jaundice, cholestasis, fulminant liver failure

  Genodermatosis:

Ichthyosis, epidermolysis bullosa, pigment dilution disorders, cutaneous porphyrias, unusual skin pigmentation

  Hematoncology genetics:

Thalassemia, childhood and adult onset cancers, aplastic anemia, DNA repair disorders, Hemophagocytic lymphohistiocytosis

  Pulmonary disorders:

Cystic fibrosis, storage disorders, genetic susceptibility to mycobacterium tuberculosis, genetic surfactant metabolism disorders

  Birth 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 condition

For more information and appointment, please write to info@geneticsinindia.com