The Apollo Genetic Clinic specializes in:
- Risk assessment,
- Management and
- Prevention of genetic disorders.
- Pre-conceptional /pre-pregnancy counselling
- Prenatal diagnosis
- Testing for chromosomal disorders: karyotype, FISH and microarray
- Testing for single gene disorders including NGS: panel testing, exome and genome sequencing
What are Genetic Disorders?
These disorders arise due to an abnormality in an individual’s genetic material. This abnormality could have been inherited from one’s parents or it could have arisen for the first time in the patient (called de novo). These disorders not only affect the patient’s quality of life but also pose a risk of being transmitted to the future generations.
What do we deal with? (Please note that the undermentioned list of conditions in not exhaustive. It only exemplifies some of the disorders wherein care is provided by the geneticist)
Neurological and Neuro-Muscular Disorders:
- Autism / ADHD /Developmental delay / intellectual disability
- Hypotonia (like Spinal Muscular Atrophy)
- Epilepsy / Seizures/Neuroregression
- Movement disorders: Ataxias,Choreas and Dystonia (like Huntington’s Disease)
- Muscle disorders: Muscular Dystrophies (like DMD) Myopathies and Neuropathies
This includes congenital abnormalities which may be present externally or internally like:
Cleft lip, palalte, congenital heart defects, renal/kidney defects,hydrocephalus, Dandy Walker malformation etc
A child/ person is said to be dysmorphic when he/she looks different. A large number of genetic syndromes can lead to dysmorphism and the clinic offers comprehensive evaluation for all. A few examples include Down syndrome, Prader Willi syndrome, William syndrome, Cri du chat etc.
Metabolic and Mitochondrial disorders:
Metabolic disorders are usually under-recognised and can present as vomiting, refusal to feed, respiratory distress, convulsions, sudden lethargy, jaundice, hepatosplenomegaly, developmental delay, neonatal deaths. Some disorders like the lysosomal storage disorders lead to significant disability. The clinic offers testing and management of all metabolic disorders like:
- Urea cycle defects
- Organic acidemias
- Fatty acid oxidation defects
- Lysosomal storage disorders like mucopolysaccharidosis (MPS), oligosaccharide storage disorders (like Tay Sach’s, GM1 gangliosidosis, mucolipidosis etc.)
- Glycogen storage disorders.
- Congenital disorders of glycosylation
- Mitochondrial disorders etc.
- Abnormalities in biochemical screening for chromosomal aneuploidies like Trisomy 21 (Down syndrome), trisomy 13 (Patau syndrome), trisomy 18 (Edward syndrome) and Triploidy.
Non Invasive Prenatal Testing (NIPT) facilities are available.
- Anomalies/ abnormality detected on fetal ultrasound examination: Testing, counseling and management of anomalies detected on fetal ultrasound including intrauterine growth retardation (IUGR).
- Invasive Prenatal testing (CVS-Chorionic villous sampling/Amniocentesis/Cordocentesis): Prenatal diagnostic testing in families with previously established genetic disorders.
- Teratogenicity: Advice and prognosis regarding drug and radiation teratogenicity and effects of underlying maternal illness on the fetus.
- Recurrent pregnancy loss.
Congenital cataract, Retinitis pigmentosa, Congenital glaucoma, Leber’s amaurosis,Cone rod dystrophy, LHON (Leber hereditary optic neuropathy)
Albinism, Epidermolysis bullosa, Icthyosis .Xeroderma pigmentosum etc.
Thalasemmias, Sickle cell anemia, HLH etc.
- Leukemias, Breast cancer,Colon cancer
2.. Breakage syndromes like ataxia telangiectasia, bloom syndrome etc
3.. Counseling, risk assessment, predictive testing ,screening and risk reduction for individuals with a family history of cancer.
Short stature and skeletal dysplasias:
Assessment is available both for short stature due to inherited problems in growth hormone production and function as well as disproportionate short stature which is due to an abnormality in the skeletal development. Some examples of skeletal problems and short stature syndromes that we deal with include:
1.Achondroplasia, ,Hypochondroplasia, ,Morquio disease ,Growth hormone deficiency
.2 Syndromic short stature like Seckel syndrome, Rubinstein Taybi syndrome and others.
Do I need a geneticist?
Since the field of genetics is still a developing specialty in medical science, you might be unsure as to whether you need to consult a geneticist. A few scenarios where a genetic opinion is helpful and should be sought are cited below.
- Family history: of an affected individual (even single) with any of the conditions listed above.
- Previous affected offspring: if you have/had a child with any of the disorders listed above.
- Recurrent sudden deaths: adult or neonatal
- Recurrent pregnancy losses
- Family history of cancer
- Before planning a pregnancy especially if any of the above has occurred in your family
If you are unsure whether the problem in the family is genetic, WE ARE THERE TO HELP YOU.
Dr Udhaya Kotecha