Blood or tissue samples needed for Genetic testing are collected from patients after a written consent for DNA analysis, following which samples are sent for appropriate testing.
- Inborn errors of Metabolism
- Lysosomal Storage disorders
- Mucolipidosis
- Others
- Peripheral Blood Karyotyping, Antenatal sample for Karyotyping
- FISH
- Chromosomal Microarray
- QF-PCR
- Whole exome Sequencing
- Mitochondrial Genome sequencing
- Carrier Exome Sequencing
- Trio-Exome Sequencing
- Whole Genome Sequencing
- Multiplex Ligation Dependant Probe amplification (MLPA)
- Methylation specific-MLPA (MSMLPA)- For imprinting disorders
- Sanger Sequencing
- TP-PCR for Triplet repeat disorders
We strictly abide by the policies laid by American College of Medical Genetics and Genomics, thereby a Clinical Genome-scale sequencing will be performed, only after taking a written and informed consent from a qualified Genetics health care professional.
We do adhere to the Fundamental ethical Principles to safeguard the privacy and confidentiality of the patient’s genetic information, therefore seeking to do good, acting on the best interests of the patient.
Samples are generally outsourced to standard labs and the turn -around time is approximately 2 to 4 weeks. Certain Genetic disorders might need more than 1 genetic testing. Prepare yourself for a minimum of three visits with the Genetic consultant. It is indeed mandatory that most of the test results in the patient have to be confirmed by validating the same in the parents/or siblings, that will be decided by your Genetics Consultant.
