Genetic Testing of Diseases - Glossary

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Consanguineous marriage: Marriage among blood relatives

Spontaneous Abortions: Natural end of pregnancy before 20 weeks of gestation

Autosomes: Chromosomes other than the sex chromosomes (22 pairs)

Sex Chromosomes: The X and Y-chromosomes that determine the sex of an organism

Genetic Anomaly: Genetic abnormality

Cystic Fibrosis: Hereditary disease affecting the body that progressively debilitates and leads to an early death

Sickle cell anemia: Hereditary blood disorder resulting in the production of abnormally shaped RBCs

Sickle cell trait: Medically normal condition where a person has one normal gene and carries one copy of the sickle cell anemia gene.

Turnerís syndrome: Chromosomal condition that affects only girls and women

Klinefelterís syndrome: Chromosomal condition that affects males

Down syndrome: A chromosomal disorder causing mental retardation and several other medical problems

DNA fingerprinting: studying the DNA sequences of an individual which are unique as a fingerprint

Phenylketoneuria: Genetic disorder which results in the body not being able to utilize the amino acid phenylalanine

Congenital hypothyroidism: Genetic condition found in the new borns that results in the abnormal development or function of the thyroid gland

Late- onset diseases: Diseases that show up at a later stage in life

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One of my relative's son has low biotinidise enzyme. He was born 2 weeks ago in USA and is using biotin 5MG tablets now. They are in USA and want to come to Chennai - in 3 months from now [2-June-2015]. They were told that a blood sample needs to be tested for biotin every 6 months to adjust the dosage of Biotin prescribed for the baby. Is Biotin tablets for infants available in Chennai? Is there medical centers/labs/doctors at Chennai who treats such biotin related gene disorder? Any early response is greatly appreciated. Thanks !


Dear Doctor, My daughter is suffering from CAH and she need a genital corrective surgery. She is under AIIMS treatment. I do not know if where CAH is being treated. Due to a long waiting time I wish to have an alternate opinion. Please suggest me. Thanks a lot.

Hello Doctor, can you please suggest the best place in India for genetic counseling. My daughter who is now 5 1/5 years old had long segment hirschsprungs diseases at birth which was treated with pull through surgery. Both me and my husband are not aware of any family history of hirschsprungs in our family. Now I am planning for another kid but before that want to be sure of the underlying reason for my daughter's condition and the chances of recurrence in future pregnancies. Any advice on this will be very much appreciated. Thank you!

The best genetic counselor in India by popular consensus is Dr.Ashok Prasad who is a professor also holding a genetic counseling masters from Brandeis University. He works only on a charitable basis in Gorakhpur but am sure could be persuaded to advise you


Hello doctor, we had a child who was effected by spinal muscullar attrophy[type one]. Now we are planning for our next baby. doctor told us to go for CVS testing. but I want to know whether there is any other ideal option for us.Pleas give me suggestions. Subhajit bhowmick

helllo doctor,my wife is a pregnant our doctor is prefre to amniocentesis so plz tell me where i do in delhi,india and how much it cost

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